Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.S526Splc

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.S526Splc
c.1577+1G>A
Surrounding Variants
1 paper
NM_006788.4
p.E564K
c.1690G>A
1 paper
NM_006788.4
p.R581C
c.1741C>T
1 paper
NM_006788.4
p.A601insFs
c.1802dupC
1 paper
NM_006788.4
p.A601fs
c.1801_1802fs
1 paper
NM_006788.4
p.P611L
c.1832C>T
1 paper
NM_006788.4
p.A617V
c.1850C>T
1 paper
NM_006788.4
p.V625D
c.1874T>A
1 paper
NM_006788.4
p.E627A
c.1880A>C
1 paper
NM_006788.4
p.S645L
c.1934C>T
2 papers
NM_006788.4
p.S463L
c.1388C>T
1 paper
NM_006788.4
p.K440R
c.1319A>G
1 paper
NM_006788.4
p.L439P
c.1316T>C
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