Varaico: Literature-Extracted Genetic Variants

RASA3

98 papers

RefSeq Summary

This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. I...

Pfam Domains

C2aa 12–114UCSCC2 domain

C2aa 145–265UCSCC2 domain

RasGAPaa 351–423UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 3

HGNC Alias Symbols

GAP1IP4BP; GAPIII

Papers

RefSeq ID

Protein change

DNA change

1–12 of 90 variants

9 papers

NM_007368.4

p.G125V

c.374G>T

3 papers

NM_007368.4

p.V117M

c.349G>A

3 papers

NM_007368.4

p.H794L

c.2381A>T

2 papers

NM_007368.4

p.R49K

c.146G>A

2 papers

NM_007368.4

p.R371Q

c.1112G>A

2 papers

NM_007368.4

p.T442T

c.1326T>C

2 papers

NM_007368.4

p.S530F

c.1589C>T

2 papers

NM_007368.4

p.K585R

c.1754A>G

2 papers

NM_007368.4

p.N597D

c.1789A>G

2 papers

NM_007368.4

p.R601K

c.1802G>A

2 papers

NM_007368.4

p.K614E

c.1840A>G

2 papers

NM_007368.4

p.E729Q

c.2185G>C