Varaico: Literature-Extracted Genetic Variants

Gene:RALBP1
Variant:p.E65A

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.E65A
c.194A>C
Surrounding Variants
1 paper
NM_006788.4
p.E65delFs
c.193delG
1 paper
NM_006788.4
p.D64A
c.191A>C
1 paper
NM_006788.4
p.D64N
c.190G>A
1 paper
NM_006788.4
p.D63E
c.189T>A
1 paper
NM_006788.4
p.D63H
c.187G>C
1 paper
NM_006788.4
p.D67E
c.201T>A
1 paper
NM_006788.4
p.H68D
c.202C>G
1 paper
NM_006788.4
p.S62A
c.184T>G
1 paper
NM_006788.4
p.G69E
c.206G>A
1 paper
NM_006788.4
p.K72insFs
c.216dupA
1 paper
NM_006788.4
p.K72delFs
c.215_216delAA
1 paper
NM_006788.4
p.K71R
c.212A>G
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