Varaico: Literature-Extracted Genetic Variants

Gene:RASEF
Variant:p.K517N

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.K517N
c.1551G>T
Surrounding Variants
1 paper
NM_152573.4
p.K517N
c.1551G>C
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.V497_P502delFs
c.1491_1506del16
1 paper
NM_152573.4
p.A533T
c.1597G>A
1 paper
NM_152573.4
p.R560T
c.1679G>C
1 paper
NM_152573.4
p.G575R
c.1723G>A
1 paper
NM_152573.4
p.D479_V480Splc
c.1437+1G>T
1 paper
NM_152573.4
p.K456R
c.1367A>G
1 paper
NM_152573.4
p.E448D
c.1344G>T
1 paper
NM_152573.4
p.E448D
c.1344G>C
1 paper
NM_152573.4
p.L440F
c.1320G>T
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