Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.S2603C

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.S2603C
c.7808C>G
Surrounding Variants
1 paper
NM_001164586.2
p.P2605P
c.7815T>G
1 paper
NM_001164586.2
p.D2598V
c.7793A>T
1 paper
NM_001164586.2
p.D2598N
c.7792G>A
1 paper
NM_001164586.2
p.G2588S
c.7762G>A
1 paper
NM_001164586.2
p.D2579V
c.7736A>T
1 paper
NM_001164586.2
p.G2577_S2591delFs
c.7730_7772del43
1 paper
NM_001164586.2
p.Q2569_G2570delFs
c.7707_7708delGG
1 paper
NM_001164586.2
p.Q2569*
c.7705C>T
1 paper
NM_001164586.2
p.I2639T
c.7916T>C
1 paper
NM_001164586.2
p.Q2644*
c.7930C>T
1 paper
NM_001164586.2
p.S2648F
c.7943C>T
4 papers
NM_001164586.2
p.S2651F
c.7952C>T
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