Varaico: Literature-Extracted Genetic Variants

Gene:RASEF

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
1–12 of 77 variants
6 papers
NM_152573.4
p.R262C
c.784C>T
2 papers
NM_152573.4
p.S74F
c.221C>T
2 papers
NM_152573.4
p.H350Y
c.1048C>T
2 papers
NM_152573.4
p.H350delFs
c.1049_1050delAT
2 papers
NM_152573.4
p.T582N
c.1745C>A
1 paper
NM_152573.4
p.E2insFs
c.6dupG
1 paper
NM_152573.4
p.R14C
c.40C>T
1 paper
NM_152573.4
p.S15insFs
c.45dupA
1 paper
NM_152573.4
p.V16fs
c.46_47fs
1 paper
NM_152573.4
p.R24C
c.70C>T
1 paper
NM_152573.4
p.R24H
c.71G>A
1 paper
NM_152573.4
p.E31G
c.92A>G
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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."