Varaico: Literature-Extracted Genetic Variants

Gene:SRGAP2C
Variant:p.D112E

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001329984.2
p.D112E
c.336C>A
Surrounding Variants
1 paper
NM_001329984.2
p.D112E
c.336C>G
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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."