Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP17
Variant:p.R510Q

ARHGAP17

63 papers

RefSeq Summary

RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr...

Pfam Domains

BARaa 1–239UCSCBAR domain
RhoGAPaa 266–412UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 17

HGNC Alias Symbols

RICH1; FLJ10308; NADRIN; FLJ13219; WBP15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001006634.3
p.R510Q
c.1529G>A
Surrounding Variants
1 paper
NM_001006634.3
p.Q506*
c.1516C>T
1 paper
NM_001006634.3
p.F505F
c.1515C>T
1 paper
NM_001006634.3
p.S520S
c.1560C>T
1 paper
NM_001006634.3
p.A522T
c.1564G>A
1 paper
NM_001006634.3
p.S497Splc
c.1491-1G>T
1 paper
NM_001006634.3
p.P525L
c.1574C>T
1 paper
NM_001006634.3
p.V536M
c.1606G>A
1 paper
NM_001006634.3
p.A538T
c.1612G>A
1 paper
NM_001006634.3
p.P540R
c.1619C>G
1 paper
NM_001006634.3
p.P543fs
c.1627_1628fs
2 papers
NM_001006634.3
p.P543delFs
c.1628delG
1 paper
NM_001006634.3
p.R548R
c.1644G>A
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