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

1 paper

NM_006989.6

p.E109V

c.326A>T

Surrounding Variants

1 paper

NM_006989.6

p.V110V

c.330C>T

1 paper

NM_006989.6

p.D111N

c.331G>A

1 paper

NM_006989.6

p.P112L

c.335C>T

1 paper

NM_006989.6

p.D113D

c.339T>C

1 paper

NM_006989.6

p.E114K

c.340G>A

1 paper

NM_006989.6

p.E119A

c.356A>C

1 paper

NM_006989.6

p.R123W

c.367C>T

1 paper

NM_006989.6

p.V126L

c.376G>C

1 paper

NM_006989.6

p.W127R

c.379T>C

1 paper

NM_006989.6

p.P128P

c.384A>C

1 paper

NM_006989.6

p.R131Q

c.392G>A

1 paper

NM_006989.6

p.A142G

c.425C>G