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

Selected Variant

2 papers

NM_007368.4

p.T442T

c.1326T>C

Surrounding Variants

1 paper

NM_007368.4

p.T442delFs

c.1325_1326delAG

1 paper

NM_007368.4

p.T442del1

c.1324_1325delAGT

1 paper

NM_007368.4

p.R431P

c.1292G>C

1 paper

NM_007368.4

p.R466C

c.1396C>T

1 paper

NM_007368.4

p.V415E

c.1244T>A

1 paper

NM_007368.4

p.K385T

c.1154A>C

2 papers

NM_007368.4

p.R371Q

c.1112G>A

1 paper

NM_007368.4

p.R371*

c.1111C>T

1 paper

NM_007368.4

p.V473I

c.1417G>A

1 paper

NM_007368.4

p.F481F

c.1443C>T

1 paper

NM_007368.4

p.R485K

c.1454G>A

1 paper

NM_007368.4

p.P494insFs

c.1480_1481insG