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

9 papers

NM_212482.4

p.P1472_R1473del1

c.4415_4417delGAG

Surrounding Variants

1 paper

NM_212482.4

p.R1473Q

c.4418G>A

1 paper

NM_212482.4

p.T1477A

c.4429A>G

1 paper

NM_212482.4

p.G1478G

c.4434C>A

2 papers

NM_212482.4

p.R1482C

c.4444C>T

2 papers

NM_212482.4

p.E1486G

c.4457A>G

2 papers

NM_212482.4

p.R1491_P1492del1

c.4473_4475delGGT

1 paper

NM_212482.4

p.R1493Q

c.4478G>A

1 paper

NM_212482.4

p.T1453A

c.4357A>G

1 paper

NM_212482.4

p.E1494D

c.4482A>T

1 paper

NM_212482.4

p.E1494D

c.4482A>C

1 paper

NM_212482.4

p.S1451F

c.4352C>T

2 papers

NM_212482.4

p.D1495A

c.4484A>C