Varaico: Literature-Extracted Genetic Variants

Gene:RASEF
Variant:p.D400Y

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.D400Y
c.1198G>T
Surrounding Variants
1 paper
NM_152573.4
p.R384K
c.1151G>A
1 paper
NM_152573.4
p.R401Splc
c.1202+388A>G
1 paper
NM_152573.4
p.K366insFs
c.1097_1098insA
1 paper
NM_152573.4
p.S365_K366insFs
c.1095_1096insA
2 papers
NM_152573.4
p.H350delFs
c.1049_1050delAT
1 paper
NM_152573.4
p.H350fs
c.1048_1049fs
2 papers
NM_152573.4
p.H350Y
c.1048C>T
1 paper
NM_152573.4
p.Q343Splc
c.1029-3C>A
1 paper
NM_152573.4
p.R332Q
c.995G>A
1 paper
NM_152573.4
p.R320Splc
c.960-9A>G
1 paper
NM_152573.4
p.R404H
c.1211G>A
1 paper
NM_152573.4
p.E410E
c.1230G>A
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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."