Varaico: Literature-Extracted Genetic Variants

Gene:RACGAP1
Variant:p.S628F

RACGAP1

62 papers

RefSeq Summary

This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results i...

Pfam Domains

C1_1aa 287–338UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
RhoGAPaa 363–509UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rac GTPase activating protein 1

HGNC Alias Symbols

MgcRacGAP; CYK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001319999.2
p.S628F
c.1883C>T
Surrounding Variants
1 paper
NM_001319999.2
p.A627fs
c.1879_1880fs
1 paper
NM_001319999.2
p.K632R
c.1895A>G
1 paper
NM_001319999.2
p.L619R
c.1856T>G
1 paper
NM_001319999.2
p.P589T
c.1765C>A
1 paper
NM_001319999.2
p.N560N
c.1680T>C
1 paper
NM_001319999.2
p.L553fs
c.1657_1658fs
1 paper
NM_001319999.2
p.L553delFs
c.1658delA
1 paper
NM_001319999.2
p.L553Q
c.1658T>A
1 paper
NM_001319999.2
p.L553I
c.1657C>A
1 paper
NM_001319999.2
p.E548E
c.1644G>A
1 paper
NM_001319999.2
p.R530H
c.1589G>A
1 paper
NM_001319999.2
p.Q524H
c.1572A>T
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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."