Varaico: Literature-Extracted Genetic Variants

Gene:RASEF
Variant:p.Q600L

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.Q600L
c.1799A>T
Surrounding Variants
1 paper
NM_152573.4
p.R602Splc
c.1805+1G>A
2 papers
NM_152573.4
p.T582N
c.1745C>A
1 paper
NM_152573.4
p.G575R
c.1723G>C
1 paper
NM_152573.4
p.G575R
c.1723G>A
1 paper
NM_152573.4
p.V636E
c.1907T>A
1 paper
NM_152573.4
p.G575R
c.1723G>A
1 paper
NM_152573.4
p.R560T
c.1679G>C
1 paper
NM_152573.4
p.A533T
c.1597G>A
1 paper
NM_152573.4
p.S520*
c.1559C>G
1 paper
NM_152573.4
p.S520*
c.1559C>A
1 paper
NM_152573.4
p.K517N
c.1551G>T
1 paper
NM_152573.4
p.K517N
c.1551G>C
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