Varaico: Literature-Extracted Genetic Variants

Gene:SRGAP2B
Variant:p.L75V

SRGAP2B

9 papers

RefSeq Summary

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

Pfam Domains

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

Gene Aliases

HGNC Name

SLIT-ROBO Rho GTPase activating protein 2B

HGNC Previous Symbol

SRGAP2P2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271870.5
p.L75V
c.223C>G
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