Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.E2848D

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.E2848D
c.8544G>T
Surrounding Variants
1 paper
NM_001164586.2
p.E2848D
c.8544G>C
1 paper
NM_001164586.2
p.G2842G
c.8526G>A
2 papers
NM_001164586.2
p.D2860N
c.8578G>A
1 paper
NM_001164586.2
p.R2863W
c.8587C>T
1 paper
NM_001164586.2
p.R2863Q
c.8588G>A
1 paper
NM_001164586.2
p.R2863L
c.8588G>T
1 paper
NM_001164586.2
p.R2873I
c.8618G>T
1 paper
NM_001164586.2
p.D2877D
c.8631C>T
1 paper
NM_001164586.2
p.S2819S
c.8457T>A
1 paper
NM_001164586.2
p.R2891Q
c.8672G>A
1 paper
NM_001164586.2
p.A2805S
c.8413G>T
1 paper
NM_001164586.2
p.K2906R
c.8717A>G
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