Varaico: Literature-Extracted Genetic Variants

Gene:EML2
Variant:p.R47C

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.R47C
c.139C>T
Surrounding Variants
1 paper
NM_012155.4
p.A39A
c.117A>T
1 paper
NM_012155.4
p.M33V
c.97A>G
1 paper
NM_012155.4
p.P31T
c.91C>A
1 paper
NM_012155.4
p.M23Fs
c.69delinsGGGGACCGGGCCCGGGCTFs
1 paper
NM_012155.4
p.D18E
c.54T>G
1 paper
NM_012155.4
p.G5*
c.13G>T
1 paper
NM_012155.4
p.M1T
c.2T>C
1 paper
NM_012155.4
p.R66Q
c.197G>A
1 paper
NM_012155.4
p.D67N
c.199G>A
1 paper
NM_012155.4
p.V84M
c.250G>A
1 paper
NM_012155.4
p.A85T
c.253G>A
1 paper
NM_012155.4
p.L102L
c.304C>T
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