Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIPK1C

Variant:p.A65E

DIPK1C

33 papers

RefSeq Summary

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided...

Pfam Domains

PIP49_Naa 23–169UCSCN-term cysteine-rich ER, FAM69

PIP49_Caa 187–385UCSCProtein-kinase domain of FAM69

Gene Aliases

HGNC Name

divergent protein kinase domain 1C

HGNC Previous Symbols

C18orf51; FAM69C

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr18:74457066 G>T

NM_001044369.3

p.A65E

c.194C>A

PIP49_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

Surrounding Variants

1 paper

chr18:74457109 A>C

NM_001044369.3

p.S51A

c.151T>G

PIP49_N

exact variant not in gnomAD13 overlapping SVs

1 paper

chr18:74457200 G>T

NM_001044369.3

p.C20*

c.60C>A

Exome: 0.0% (AC=234, hom=3)Genome: 0.0% (AC=59, hom=0)12 overlapping SVs

1 paper

chr18:74447263 G>A

NM_001044369.3

p.G73G

c.219C>T

PIP49_N

Exome: 0.0% (AC=211, hom=0)Genome: 0.0% (AC=22, hom=0)13 overlapping SVs

1 paper

chr18:74447255 G>A

NM_001044369.3

p.A76V

c.227C>T

PIP49_N

Exome: 0.8% (AC=10835, hom=388)Genome: 1.5% (AC=2279, hom=45)13 overlapping SVs

1 paper

chr18:74447224 C>G

NM_001044369.3

p.A86A

c.258G>C

PIP49_N

Exome: 0.3% (AC=3977, hom=152)Genome: 2.7% (AC=4171, hom=195)13 overlapping SVs

1 paper

chr18:74447220 C>A

NM_001044369.3

p.E88*

c.262G>T

PIP49_N

exact variant not in gnomAD13 overlapping SVs

2 papers

chr18:74447220 C>T

NM_001044369.3

p.E88K

c.262G>A

PIP49_N

Exome: 99.8% (AC=1395436, hom=696643)Genome: 98.3% (AC=149637, hom=73584)13 overlapping SVs

1 paper

chr18:74447151 G>T

NM_001044369.3

p.R111R

c.331C>A

PIP49_N

Exome: 0.1% (AC=1359, hom=21)Genome: 0.1% (AC=105, hom=2)13 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."