Varaico: Literature-Extracted Genetic Variants

Gene:RASEF
Variant:p.R262H

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.R262H
c.785G>A
Surrounding Variants
6 papers
NM_152573.4
p.R262C
c.784C>T
1 paper
NM_152573.4
p.E258K
c.772G>A
1 paper
NM_152573.4
p.E267K
c.799G>A
1 paper
NM_152573.4
p.D268Y
c.802G>T
1 paper
NM_152573.4
p.A298A
c.894C>A
1 paper
NM_152573.4
p.S302C
c.904A>T
1 paper
NM_152573.4
p.R237H
c.710G>A
1 paper
NM_152573.4
p.E229V
c.686A>T
1 paper
NM_152573.4
p.R226C
c.676C>T
1 paper
NM_152573.4
p.D223_E224Splc
c.670-1G>T
1 paper
NM_152573.4
p.D223_E224Splc
c.670-2A>T
1 paper
NM_152573.4
p.R320Splc
c.960-9A>G
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