Varaico: Literature-Extracted Genetic Variants

Gene:EML2
Variant:p.E235D

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
2 papers
NM_012155.4
p.E235D
c.705G>T
Surrounding Variants
2 papers
NM_012155.4
p.E235D
c.705G>C
1 paper
NM_012155.4
p.H249Q
c.747T>G
1 paper
NM_012155.4
p.H249Q
c.747T>A
1 paper
NM_012155.4
p.Y254D
c.760T>G
1 paper
NM_012155.4
p.V258V
c.774G>T
1 paper
NM_012155.4
p.G273V
c.818G>T
1 paper
NM_012155.4
p.D191G
c.572A>G
1 paper
NM_012155.4
p.L187F
c.559C>T
1 paper
NM_012155.4
p.D184H
c.550G>C
1 paper
NM_012155.4
p.A302A
c.906C>T
1 paper
NM_012155.4
p.L303L
c.907C>T
1 paper
NM_012155.4
p.G311A
c.932G>C
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