Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.A2040V

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
4 papers
NM_001164586.2
p.A2040V
c.6119C>T
Surrounding Variants
7 papers
NM_001164586.2
p.E2042K
c.6124G>A
1 paper
NM_001164586.2
p.E2042_R2043delins
c.6124_6127delinsAAGG
1 paper
NM_001164586.2
p.L2038delFs
c.6114delG
1 paper
NM_001164586.2
p.L2038fs
c.6112_6113fs
5 papers
NM_001164586.2
p.R2043G
c.6127A>G
3 papers
NM_001164586.2
p.I2044M
c.6132A>G
1 paper
NM_001164586.2
p.G2047E
c.6140G>A
1 paper
NM_001164586.2
p.G2047G
c.6141A>C
5 papers
NM_001164586.2
p.G2051S
c.6151G>A
3 papers
NM_001164586.2
p.R2027G
c.6079C>G
1 paper
NM_001164586.2
p.R2027W
c.6079C>T
1 paper
NM_001164586.2
p.R2053S
c.6159G>C
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