Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.P379R

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.P379R
c.1136C>G
Surrounding Variants
1 paper
NM_006788.4
p.P379H
c.1136C>A
1 paper
NM_006788.4
p.M377insFs
c.1129dupA
1 paper
NM_006788.4
p.V376_M377delFs
c.1127_1131del5
1 paper
NM_006788.4
p.P389insFs
c.1167dupC
1 paper
NM_006788.4
p.P389delFs
c.1167delC
1 paper
NM_006788.4
p.P392L
c.1175C>T
1 paper
NM_006788.4
p.E393insFs
c.1178dupA
1 paper
NM_006788.4
p.A396V
c.1187C>T
1 paper
NM_006788.4
p.T362A
c.1084A>G
1 paper
NM_006788.4
p.S353fs
c.1057_1058fs
1 paper
NM_006788.4
p.Q405_E406Splc
c.1215+1G>A
1 paper
NM_006788.4
p.Q405_E406Splc
c.1215+2T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."