Varaico: Literature-Extracted Genetic Variants

Gene:RAB4A
Variant:p.S42P

RAB4A

20 papers

RefSeq Summary

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their...

Pfam Domains

Rasaa 2–71UCSCRas family
Rasaa 15–176UCSCRas family

Gene Aliases

HGNC Name

RAB4A, member RAS oncogene family

HGNC Alias Symbol

HRES-1/RAB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004578.4
p.S42P
c.124T>C
Surrounding Variants
1 paper
NM_004578.4
p.Q72L
c.215A>T
1 paper
NM_004578.4
p.R76Splc
c.227+1G>A
1 paper
NM_004578.4
p.H31Y
c.91C>T
1 paper
NM_004578.4
p.L90V
c.268C>G
1 paper
NM_004578.4
p.S97Splc
c.290+626C>T
1 paper
NM_004578.4
p.D110delFs
c.330delT
1 paper
NM_004578.4
p.R134H
c.401G>A
1 paper
NM_004578.4
p.A141T
c.421G>A
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