Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.E1215K

IGFN1

307 papers

Pfam Domains

I-setaa 29–120UCSCImmunoglobulin I-set domain
THBaa 166–199UCSCTri-helix bundle domain
I-setaa 456–541UCSCImmunoglobulin I-set domain
I-setaa 456–541UCSCImmunoglobulin I-set domain
I-setaa 548–640UCSCImmunoglobulin I-set domain
I-setaa 548–640UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

immunoglobulin like and fibronectin type III domain containing 1

HGNC Alias Symbols

DKFZp434B1231; EEF1A2BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164586.2
p.E1215K
c.3643G>A
Surrounding Variants
1 paper
NM_001164586.2
p.E1215D
c.3645G>C
1 paper
NM_001164586.2
p.E1215D
c.3645G>T
1 paper
NM_001164586.2
p.Y1206_N1210del5
c.3616_3629del15
1 paper
NM_001164586.2
p.R1229K
c.3686G>A
1 paper
NM_001164586.2
p.H1195Y
c.3583C>T
1 paper
NM_001164586.2
p.R1235M
c.3704G>T
1 paper
NM_001164586.2
p.T1186S
c.3557C>G
1 paper
NM_001164586.2
p.T1186S
c.3556A>T
1 paper
NM_001164586.2
p.P1246A
c.3736C>G
2 papers
NM_001164586.2
p.G1247A
c.3740G>C
1 paper
NM_001164586.2
p.Y1182N
c.3544T>A
1 paper
NM_001164586.2
p.E1249*
c.3745G>T
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