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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIBAN1

Variant:p.A23T

NIBAN1

94 papers

RefSeq Summary

This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. Th...

Pfam Domains

PH_Niban2aa 62–200UCSCProtein Niban 2-like, PH domain

Niban2aa 337–506UCSCProtein Niban 2-like domain

Gene Aliases

HGNC Name

niban apoptosis regulator 1

HGNC Previous Symbols

C1orf24; FAM129A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:184899298 C>T

NM_052966.4

p.A23T

c.67G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a168 overlapping SVs

Surrounding Variants

1 paper

chr1:184899303 GT>G

NM_052966.4

p.T21delFs

c.61delT

exact variant not in gnomAD168 overlapping SVs

1 paper

chr1:184899231 C>T

NM_052966.4

p.R45H

c.134G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=8, hom=0)168 overlapping SVs

1 paper

chr1:184899203 T>A

NM_052966.4

p.L54F

c.162A>T

exact variant not in gnomAD168 overlapping SVs

1 paper

chr1:184899203 T>G

NM_052966.4

p.L54F

c.162A>C

exact variant not in gnomAD168 overlapping SVs

2 papers

chr1:184894196 G>A

NM_052966.4

p.A66V

c.197C>T

PH_Niban2

Exome: 1.8% (AC=25331, hom=260)Genome: 1.2% (AC=1834, hom=17)168 overlapping SVs

1 paper

chr1:184890218 T>C

NM_052966.4

p.Y108C

c.323A>G

PH_Niban2

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)168 overlapping SVs

1 paper

chr1:184890198 T>C

NM_052966.4

p.K115E

c.343A>G

PH_Niban2

Exome: 0.0% (AC=3, hom=0)Genome: n/a168 overlapping SVs

1 paper

chr1:184890177 C>T

NM_052966.4

p.G122S

c.364G>A

PH_Niban2

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)168 overlapping SVs

1 paper

chr1:184890129 T>G

NM_052966.4

p.R138R

c.412A>C

PH_Niban2

exact variant not in gnomAD168 overlapping SVs

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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."