Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP17
Variant:p.Q814fs

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.Q814fs
c.2440_2441fs
Surrounding Variants
1 paper
NM_001006634.3
p.G817A
c.2450G>C
1 paper
NM_001006634.3
p.P803S
c.2407C>T
1 paper
NM_001006634.3
p.R796K
c.2387G>A
1 paper
NM_001006634.3
p.G782D
c.2345G>A
1 paper
NM_001006634.3
p.T759A
c.2275A>G
1 paper
NM_001006634.3
p.E748E
c.2244G>A
1 paper
NM_001006634.3
p.S732N
c.2195G>A
1 paper
NM_001006634.3
p.P730S
c.2188C>T
1 paper
NM_001006634.3
p.L725L
c.2173C>T
1 paper
NM_001006634.3
p.P715P
c.2145G>A
1 paper
NM_001006634.3
p.P715T
c.2143C>A
1 paper
NM_001006634.3
p.P714L
c.2141C>T
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