Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP21
Variant:p.Q754H

ARHGAP21

132 papers

RefSeq Summary

ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 a...

Pfam Domains

PDZ_6aa 103–155UCSCPDZ domain
PHaa 922–1030UCSCPH domain
RhoGAPaa 1152–1301UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 21

HGNC Alias Symbol

KIAA1424

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020824.4
p.Q754H
c.2262G>C
Surrounding Variants
1 paper
NM_020824.4
p.Q754H
c.2262G>T
1 paper
NM_020824.4
p.W772R
c.2314T>C
1 paper
NM_020824.4
p.W772R
c.2314T>A
2 papers
NM_020824.4
p.R778H
c.2333G>A
1 paper
NM_020824.4
p.R779*
c.2335C>T
1 paper
NM_020824.4
p.E720Q
c.2158G>C
3 papers
NM_020824.4
p.N713S
c.2138A>G
1 paper
NM_020824.4
p.P796Q
c.2387C>A
1 paper
NM_020824.4
p.R712T
c.2135G>C
1 paper
NM_020824.4
p.P797S
c.2389C>T
1 paper
NM_020824.4
p.D808Splc
c.2422+1G>A
2 papers
NM_020824.4
p.D674N
c.2020G>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."