Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.E96*

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.E96*
c.286G>T
Surrounding Variants
1 paper
NM_006788.4
p.E96K
c.286G>A
1 paper
NM_006788.4
p.D95E
c.285T>G
1 paper
NM_006788.4
p.S101P
c.301T>C
1 paper
NM_006788.4
p.S101A
c.301T>G
1 paper
NM_006788.4
p.Q89H
c.267G>C
1 paper
NM_006788.4
p.K102N
c.306A>C
1 paper
NM_006788.4
p.K102N
c.306A>T
1 paper
NM_006788.4
p.Q89_E90del1
c.266_268delAGG
1 paper
NM_006788.4
p.A87D
c.260C>A
2 papers
NM_006788.4
p.K104N
c.312G>C
2 papers
NM_006788.4
p.K104N
c.312G>T
1 paper
NM_006788.4
p.R105S
c.315G>C
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