Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_212482.4

p.I1988I

c.5964C>T

Surrounding Variants

2 papers

NM_212482.4

p.I1988del1

c.5962_5964delGAT

1 paper

NM_212482.4

p.P1985H

c.5954C>A

14 papers

NM_212482.4

p.L1974R

c.5921T>G

11 papers

NM_212482.4

p.L1974P

c.5921T>C

1 paper

NM_212482.4

p.Y1970H

c.5908T>C

1 paper

NM_212482.4

p.Q1965_P1966insFs

c.5895_5896insA

1 paper

NM_212482.4

p.G1963A

c.5888G>C

1 paper

NM_212482.4

p.G1963Splc

c.5888-1G>C

3 papers

NM_212482.4

p.G1963Splc

c.5888-2A>G

1 paper

NM_212482.4

p.A1993Splc

c.5978-2A>G

1 paper

NM_212482.4

p.D1995N

c.5983G>A

1 paper

NM_212482.4

p.P1997Q

c.5990C>A