Varaico: Literature-Extracted Genetic Variants

RALGDS

219 papers

RefSeq Summary

Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular p...

Pfam Domains

RasGEF_Naa 115–227UCSCRasGEF N-terminal motif

RasGEFaa 389–596UCSCRasGEF domain

RAaa 798–885UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

ral guanine nucleotide dissociation stimulator

HGNC Alias Symbols

RGF; RalGEF; RGDS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006266.4

p.L858R

c.2573T>G

Surrounding Variants

1 paper

NM_006266.4

p.K857Splc

c.2570-2A>T

1 paper

NM_006266.4

p.T873T

c.2619C>T

1 paper

NM_006266.4

p.V879I

c.2635G>A

2 papers

NM_006266.4

p.L880L

c.2640C>G

3 papers

NM_006266.4

p.R883Q

c.2648G>A

1 paper

NM_006266.4

p.R901C

c.2701C>T

1 paper

NM_006266.4

p.G906E

c.2717G>A

1 paper

NM_006266.4

p.D855A

c.2564A>C

1 paper

NM_006266.4

p.D855N

c.2563G>A

1 paper

NM_006266.4

p.E839*

c.2515G>T

1 paper

NM_006266.4

p.R830H

c.2489G>A

1 paper

NM_006266.4

p.L818_V819Splc

c.2454+66C>T