Varaico: Literature-Extracted Genetic Variants

RASA4

65 papers

RefSeq Summary

This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular ...

Pfam Domains

C2aa 5–107UCSCC2 domain

C2aa 133–234UCSCC2 domain

RasGAPaa 323–512UCSCGTPase-activator protein for Ras-like GTPase

PHaa 567–672UCSCPH domain

BTKaa 681–710UCSCBTK motif

Gene Aliases

HGNC Name

RAS p21 protein activator 4

HGNC Alias Symbols

KIAA0538; CAPRI; GAPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006989.6

p.F376S

c.1127T>C

Surrounding Variants

2 papers

NM_006989.6

p.L368P

c.1103T>C

1 paper

NM_006989.6

p.R401H

c.1202G>A

1 paper

NM_006989.6

p.R473S

c.1417C>A

1 paper

NM_006989.6

p.R488L

c.1463G>T

1 paper

NM_006989.6

p.T496P

c.1486A>C

7 papers

NM_006989.6

p.M352V

c.1054A>G

1 paper

NM_006989.6

p.T340I

c.1019C>T

1 paper

NM_006989.6

p.L326V

c.976C>G

1 paper

NM_006989.6

p.P527T

c.1579C>A

1 paper

NM_006989.6

p.L275M

c.823C>A

3 papers

NM_006989.6

p.Q558R

c.1673A>G

3 papers

NM_006989.6

p.Q564*

c.1690C>T