Varaico: Literature-Extracted Genetic Variants

Gene:EML2
Variant:p.D471Splc

EML2

35 papers

Pfam Domains

HELPaa 50–89UCSCHELP motif
WD40aa 95–130UCSCWD domain, G-beta repeat
WD40aa 285–322UCSCWD domain, G-beta repeat
WD40aa 368–405UCSCWD domain, G-beta repeat
WD40aa 452–488UCSCWD domain, G-beta repeat
WD40aa 496–534UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

EMAP like 2

HGNC Alias Symbols

EMAP2; ELP70; EMAP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012155.4
p.D471Splc
c.1412-8T>C
Surrounding Variants
1 paper
NM_012155.4
p.V484L
c.1450G>T
1 paper
NM_012155.4
p.V484L
c.1450G>C
1 paper
NM_012155.4
p.V465_V466insFs
c.1395_1396insG
1 paper
NM_012155.4
p.V466insFs
c.1396_1397insGG
1 paper
NM_012155.4
p.H450Q
c.1350T>G
1 paper
NM_012155.4
p.H450Q
c.1350T>A
1 paper
NM_012155.4
p.H450Y
c.1348C>T
1 paper
NM_012155.4
p.T449T
c.1347C>T
1 paper
NM_012155.4
p.H505N
c.1513C>A
1 paper
NM_012155.4
p.A546D
c.1637C>A
1 paper
NM_012155.4
p.L559_G560insFs
c.1677_1678insG
1 paper
NM_012155.4
p.G560insFs
c.1678_1679insGG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."