Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLF14

KLF14

48 papers

RefSeq Summary

This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor...

Pfam Domains

zf-C2H2aa 195–219UCSCZinc finger, C2H2 type

zf-C2H2aa 225–249UCSCZinc finger, C2H2 type

zf-C2H2aa 255–277UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

KLF transcription factor 14

HGNC Alias Symbol

BTEB5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 32 variants

5 papers

chr7:130733862 G>A

NM_138693.4

p.P58S

c.172C>T

Exome: 80.4% (AC=951881, hom=383499)Genome: 74.5% (AC=112286, hom=42374)62 overlapping SVs

4 papers

chr7:130733894 G>T

NM_138693.4

p.P47Q

c.140C>A

Exome: 80.7% (AC=954209, hom=385816)Genome: 74.5% (AC=111697, hom=42111)62 overlapping SVs

3 papers

chr7:130733925 C>T

NM_138693.4

p.G37R

c.109G>A

Exome: 0.0% (AC=554, hom=5)Genome: 0.1% (AC=89, hom=1)62 overlapping SVs

3 papers

chr7:130733917 A>T

NM_138693.4

p.A39A

c.117T>A

Exome: 80.5% (AC=970525, hom=391613)Genome: 74.5% (AC=111544, hom=42059)62 overlapping SVs

2 papers

chr7:130733925 C>G

NM_138693.4

p.G37R

c.109G>C

exact variant not in gnomAD62 overlapping SVs

2 papers

chr7:130733698 G>A

NM_138693.4

p.S112S

c.336C>T

Exome: 47.3% (AC=669676, hom=161052)Genome: 39.3% (AC=59659, hom=13330)62 overlapping SVs

1 paper

chr7:130733867 C>T

NM_138693.4

p.G56E

c.167G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)62 overlapping SVs

1 paper

chr7:130733854 GGGCCCCGGT>G

NM_138693.4

p.P57_P60del0

c.171_179del9

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=3, hom=0)62 overlapping SVs

1 paper

chr7:130733811 C>T

NM_138693.4

p.G75S

c.223G>A

Exome: 0.0% (AC=7, hom=0)Genome: n/a62 overlapping SVs

1 paper

chr7:130733789 T>G

NM_138693.4

p.H82P

c.245A>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a62 overlapping SVs

1 paper

chr7:130733757 G>A

NM_138693.4

p.R93C

c.277C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

1 paper

chr7:130733679 G>A

NM_138693.4

p.P119S

c.355C>T

Exome: 0.8% (AC=11602, hom=850)Genome: 6.1% (AC=9239, hom=919)62 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."