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.D521fs

c.1561_1562fs

Surrounding Variants

1 paper

NM_006266.4

p.K514K

c.1542G>A

1 paper

NM_006266.4

p.R529W

c.1585C>T

1 paper

NM_006266.4

p.R510W

c.1528C>T

1 paper

NM_006266.4

p.K499E

c.1495A>G

1 paper

NM_006266.4

p.R496L

c.1487G>T

1 paper

NM_006266.4

p.S493T

c.1477T>A

1 paper

NM_006266.4

p.Q490H

c.1470G>T

1 paper

NM_006266.4

p.S487S

c.1461T>G

1 paper

NM_006266.4

p.I475T

c.1424T>C

1 paper

NM_006266.4

p.R474W

c.1420C>T

1 paper

NM_006266.4

p.R471_E472Splc

c.1414-8C>T

1 paper

NM_006266.4

p.W466L

c.1397G>T