Varaico: Literature-Extracted Genetic Variants

Gene:RACGAP1
Variant:p.H49Fs

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
1 paper
NM_001319999.2
p.H49Fs
c.146delinsCAATTATGAAGTTTFs
Surrounding Variants
1 paper
NM_001319999.2
p.Y54Fs
c.160delinsGTFs
1 paper
NM_001319999.2
p.E38Fs
c.112delinsGTFs
1 paper
NM_001319999.2
p.R65*
c.193C>T
1 paper
NM_001319999.2
p.D69N
c.205G>A
1 paper
NM_001319999.2
p.Q116K
c.346C>A
1 paper
NM_001319999.2
p.S123*
c.368C>G
1 paper
NM_001319999.2
p.S123*
c.368C>A
1 paper
NM_001319999.2
p.S164A
c.490T>G
1 paper
NM_001319999.2
p.S170A
c.508T>G
1 paper
NM_001319999.2
p.K182E
c.544A>G
2 papers
NM_001319999.2
p.R202H
c.605G>A
1 paper
NM_001319999.2
p.T220A
c.658A>G
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