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

1 paper

NM_006266.4

p.L818L

c.2452C>T

Surrounding Variants

1 paper

NM_006266.4

p.D807D

c.2421C>T

1 paper

NM_006266.4

p.V804I

c.2410G>A

1 paper

NM_006266.4

p.L818_V819Splc

c.2454+66C>T

1 paper

NM_006266.4

p.N784D

c.2350A>G

1 paper

NM_006266.4

p.R773H

c.2318G>A

1 paper

NM_006266.4

p.I724L

c.2170A>C

2 papers

NM_006266.4

p.A706V

c.2117C>T

1 paper

NM_006266.4

p.S675S

c.2025C>T

1 paper

NM_006266.4

p.S669R

c.2005A>C

1 paper

NM_006266.4

p.P647S

c.1939C>T

1 paper

NM_006266.4

p.L645P

c.1934T>C

1 paper

NM_006266.4

p.E644G

c.1931A>G