Varaico: Literature-Extracted Genetic Variants

Gene:SRGAP2B

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
1 paper
NM_001271870.5
p.L75V
c.223C>G
1 paper
NM_001271870.5
p.N97S
c.290A>G
1 paper
NM_001271870.5
p.K141_S142Splc
c.423+3875C>T
1 paper
NM_001271870.5
p.E188K
c.562G>A
1 paper
NM_001271870.5
p.V213L
c.637G>C
1 paper
NM_001271870.5
p.R250Q
c.749G>A
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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."