Varaico: Literature-Extracted Genetic Variants

Gene:RASEF
Variant:p.R24C

RASEF

54 papers

RefSeq Summary

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal ...

Pfam Domains

EF-hand_7aa 10–72UCSCEF-hand domain pair
Rasaa 543–710UCSCRas family

Gene Aliases

HGNC Name

RAS and EF-hand domain containing

HGNC Previous Symbol

RAB45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152573.4
p.R24C
c.70C>T
Surrounding Variants
1 paper
NM_152573.4
p.R24H
c.71G>A
1 paper
NM_152573.4
p.V16fs
c.46_47fs
1 paper
NM_152573.4
p.E31G
c.92A>G
1 paper
NM_152573.4
p.S15insFs
c.45dupA
1 paper
NM_152573.4
p.R14C
c.40C>T
1 paper
NM_152573.4
p.E2insFs
c.6dupG
1 paper
NM_152573.4
p.R53W
c.157C>T
1 paper
NM_152573.4
p.R58H
c.173G>A
1 paper
NM_152573.4
p.G73R
c.217G>C
2 papers
NM_152573.4
p.S74F
c.221C>T
1 paper
NM_152573.4
p.R76R
c.228C>T
1 paper
NM_152573.4
p.R79W
c.235C>T
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