Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.L2457F

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.L2457F
c.7369C>T
Surrounding Variants
1 paper
NM_001164586.2
p.R2461Q
c.7382G>A
2 papers
NM_001164586.2
p.G2469S
c.7405G>A
1 paper
NM_001164586.2
p.G2469D
c.7406G>A
1 paper
NM_001164586.2
p.A2478T
c.7432G>A
1 paper
NM_001164586.2
p.A2482delFs
c.7444delG
1 paper
NM_001164586.2
p.A2482fs
c.7444_7445fs
1 paper
NM_001164586.2
p.P2488R
c.7463C>G
1 paper
NM_001164586.2
p.P2424H
c.7271C>A
1 paper
NM_001164586.2
p.G2421V
c.7262G>T
2 papers
NM_001164586.2
p.Q2494P
c.7481A>C
1 paper
NM_001164586.2
p.S2502fs
c.7504_7505fs
1 paper
NM_001164586.2
p.E2411K
c.7231G>A
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