Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.A2284V

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.A2284V
c.6851C>T
Surrounding Variants
1 paper
NM_001164586.2
p.G2285S
c.6853G>A
1 paper
NM_001164586.2
p.G2303C
c.6907G>T
1 paper
NM_001164586.2
p.G2306C
c.6916G>T
1 paper
NM_001164586.2
p.N2318I
c.6953A>T
1 paper
NM_001164586.2
p.D2249G
c.6746A>G
1 paper
NM_001164586.2
p.G2243R
c.6727G>A
1 paper
NM_001164586.2
p.G2243R
c.6727G>C
1 paper
NM_001164586.2
p.G2240delins
c.6719_6720delinsAA
1 paper
NM_001164586.2
p.S2336fs
c.7006_7007fs
1 paper
NM_001164586.2
p.S2336delFs
c.7007_7008delGT
2 papers
NM_001164586.2
p.G2227E
c.6680G>A
1 paper
NM_001164586.2
p.G2342R
c.7024G>A
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