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

1 paper

NM_007368.4

p.D505E

c.1515C>G

Surrounding Variants

1 paper

NM_007368.4

p.D505N

c.1513G>A

1 paper

NM_007368.4

p.K517E

c.1549A>G

1 paper

NM_007368.4

p.S524N

c.1571G>A

2 papers

NM_007368.4

p.S530F

c.1589C>T

1 paper

NM_007368.4

p.A553V

c.1658C>T

1 paper

NM_007368.4

p.F497L

c.1491C>G

1 paper

NM_007368.4

p.F497fs

c.1489_1490fs

1 paper

NM_007368.4

p.P494insFs

c.1480_1481insG

1 paper

NM_007368.4

p.R485K

c.1454G>A

1 paper

NM_007368.4

p.F481F

c.1443C>T

1 paper

NM_007368.4

p.V473I

c.1417G>A

1 paper

NM_007368.4

p.V577M

c.1729G>A