Varaico: Literature-Extracted Genetic Variants

RASAL2

108 papers

RefSeq Summary

This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. T...

Pfam Domains

PH_RASGAPaa 34–157UCSCPH domain-like

C2aa 169–269UCSCC2 domain

RasGAPaa 348–420UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS protein activator like 2

HGNC Alias Symbol

nGAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170692.4

p.E114D

c.342A>C

Surrounding Variants

1 paper

NM_170692.4

p.E114D

c.342A>T

1 paper

NM_170692.4

p.V113L

c.337G>C

1 paper

NM_170692.4

p.V113L

c.337G>T

1 paper

NM_170692.4

p.E118K

c.352G>A

1 paper

NM_170692.4

p.Q120H

c.360G>C

1 paper

NM_170692.4

p.Q120H

c.360G>T

1 paper

NM_170692.4

p.T121fs

c.361_362fs

1 paper

NM_170692.4

p.T121S

c.361A>T

1 paper

NM_170692.4

p.V133A

c.398T>C

1 paper

NM_170692.4

p.E138*

c.412G>T

1 paper

NM_170692.4

p.P142T

c.424C>A

1 paper

NM_170692.4

p.P146L

c.437C>T