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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRGAP2C

Variant:p.K238N

SRGAP2C

10 papers

RefSeq Summary

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus...

Pfam Domains

FCHaa 31–115UCSCFes/CIP4, and EFC/F-BAR homology domain

Gene Aliases

HGNC Name

SLIT-ROBO Rho GTPase activating protein 2C

HGNC Previous Symbol

SRGAP2P1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:121374837 G>C

NM_001329984.2

p.K238N

c.714G>C

exact variant not in gnomAD243 overlapping SVs

Surrounding Variants

1 paper

chr1:121374837 G>T

NM_001329984.2

p.K238N

c.714G>T

exact variant not in gnomAD243 overlapping SVs

1 paper

chr1:121374845 A>G

NM_001329984.2

p.E241G

c.722A>G

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=29, hom=0)243 overlapping SVs

1 paper

chr1:121374097 T>C

NM_001329984.2

p.C205R

c.613T>C

Exome: 2.9% (AC=10450, hom=4139)Genome: 0.3% (AC=170, hom=0)243 overlapping SVs

1 paper

chr1:121373981 C>T

NM_001329984.2

p.T166I

c.497C>T

Exome: 0.1% (AC=429, hom=2)Genome: 0.1% (AC=110, hom=0)243 overlapping SVs

1 paper

chr1:121365328 G>C

NM_001329984.2

p.L153F

c.459G>C

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:121365328 G>T

NM_001329984.2

p.L153F

c.459G>T

exact variant not in gnomAD242 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."