Varaico: Literature-Extracted Genetic Variants

Gene:EMID1

EMID1

35 papers

Pfam Domains

EMIaa 34–101UCSCEMI domain
Collagenaa 212–268UCSCCollagen triple helix repeat (20 copies)
Collagenaa 286–344UCSCCollagen triple helix repeat (20 copies)
Collagenaa 312–374UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

EMI domain containing 1

HGNC Alias Symbols

EMU1; hEmu1; EMI5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
3 papers
NM_133455.4
p.A109G
c.326C>G
2 papers
NM_133455.4
p.G3D
c.8G>A
2 papers
NM_133455.4
p.T42A
c.124A>G
2 papers
NM_133455.4
p.S46S
c.138A>C
2 papers
NM_133455.4
p.R343T
c.1028G>C
2 papers
NM_133455.4
p.R358Q
c.1073G>A
2 papers
NM_133455.4
p.L392*
c.1175T>G
1 paper
NM_133455.4
p.G3V
c.8G>T
1 paper
NM_133455.4
p.A22V
c.65C>T
1 paper
NM_133455.4
p.W23C
c.69G>C
1 paper
NM_133455.4
p.W23C
c.69G>T
1 paper
NM_133455.4
p.S24N
c.71G>A
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