Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.K149E

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
2 papers
NM_006788.4
p.K149E
c.445A>G
Surrounding Variants
1 paper
NM_006788.4
p.K147*
c.439A>T
1 paper
NM_006788.4
p.T155insFs
c.464_465ins4
1 paper
NM_006788.4
p.T155A
c.463A>G
1 paper
NM_006788.4
p.A156T
c.466G>A
1 paper
NM_006788.4
p.K140N
c.420G>C
1 paper
NM_006788.4
p.K140N
c.420G>T
2 papers
NM_006788.4
p.E138A
c.413A>C
1 paper
NM_006788.4
p.K137*
c.409A>T
1 paper
NM_006788.4
p.K135R
c.404A>G
1 paper
NM_006788.4
p.E133fs
c.397_398fs
1 paper
NM_006788.4
p.K169delFs
c.506delA
1 paper
NM_006788.4
p.K130fs
c.388_389fs
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