Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.H20H

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.H20H
c.60T>C
Surrounding Variants
1 paper
NM_006788.4
p.S22G
c.64A>G
1 paper
NM_006788.4
p.E19Q
c.55G>C
1 paper
NM_006788.4
p.V18V
c.54G>C
1 paper
NM_006788.4
p.V18A
c.53T>C
1 paper
NM_006788.4
p.V18M
c.52G>A
4 papers
NM_006788.4
p.G23V
c.68G>T
1 paper
NM_006788.4
p.L24V
c.70C>G
1 paper
NM_006788.4
p.L24F
c.70C>T
1 paper
NM_006788.4
p.L24P
c.71T>C
1 paper
NM_006788.4
p.T25I
c.74C>T
1 paper
NM_006788.4
p.P12T
c.34C>A
2 papers
NM_006788.4
p.S11R
c.33C>G
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