Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.K440R

RALBP1

367 papers

RefSeq Summary

RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive an...

Pfam Domains

RhoGAPaa 210–355UCSCRhoGAP domain
RLIP76_Ral-bdaa 398–445UCSCRLIP76, Ral binding domain

Gene Aliases

HGNC Name

ralA binding protein 1

HGNC Alias Symbols

RLIP76; RIP1; RIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006788.4
p.K440R
c.1319A>G
Surrounding Variants
1 paper
NM_006788.4
p.L439P
c.1316T>C
1 paper
NM_006788.4
p.R434I
c.1301G>T
1 paper
NM_006788.4
p.Q433P
c.1298A>C
1 paper
NM_006788.4
p.Q433L
c.1298A>T
1 paper
NM_006788.4
p.E426*
c.1276G>T
1 paper
NM_006788.4
p.G418S
c.1252G>A
1 paper
NM_006788.4
p.D415H
c.1243G>C
1 paper
NM_006788.4
p.R414Q
c.1241G>A
1 paper
NM_006788.4
p.C411S
c.1232G>C
1 paper
NM_006788.4
p.C411S
c.1231T>A
1 paper
NM_006788.4
p.L408_L409insFs
c.1224_1225insT
1 paper
NM_006788.4
p.E406V
c.1217A>T
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