Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.R1927C

FN1

1,643 papers

RefSeq Summary

This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotei...

Pfam Domains

fn1aa 52–87UCSCFibronectin type I domain
fn1aa 97–135UCSCFibronectin type I domain
fn1aa 141–179UCSCFibronectin type I domain
fn1aa 186–225UCSCFibronectin type I domain
fn1aa 231–270UCSCFibronectin type I domain
fn2aa 360–401UCSCFibronectin type II domain

Gene Aliases

HGNC Name

fibronectin 1

HGNC Alias Symbols

MSF; CIG; LETS; GFND2; FINC; lnc-ABCA12-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002026.4
p.R1927C
c.5779C>T
NM_212474.3
p.R1837C
c.5509C>T
NM_212482.4
p.R2018C
c.6052C>T
Surrounding Variants
1 paper
NM_212482.4
p.P2016P
c.6048G>A
3 papers
NM_212482.4
p.P2016L
c.6047C>T
1 paper
NM_212482.4
p.G2032R
c.6094G>C
1 paper
NM_212482.4
p.G2032R
c.6094G>A
1 paper
NM_212482.4
p.L2000V
c.5998C>G
1 paper
NM_212482.4
p.E2037_V2038insT
c.6109_6113ins3
1 paper
NM_212482.4
p.P1997Q
c.5990C>A
1 paper
NM_212482.4
p.P2040fs
c.6118_6119fs
1 paper
NM_212482.4
p.P2040R
c.6119C>G
1 paper
NM_212482.4
p.P2040delFs
c.6119delG
1 paper
NM_212482.4
p.D1995N
c.5983G>A
1 paper
NM_212482.4
p.R2041W
c.6121C>T
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