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.V347E

c.1040T>A

Surrounding Variants

1 paper

NM_212482.4

p.T348P

c.1042A>C

1 paper

NM_212482.4

p.A346Splc

c.1037-5T>A

1 paper

NM_212482.4

p.T350T

c.1050T>A

1 paper

NM_212482.4

p.G353D

c.1058G>A

10 papers

NM_212482.4

p.G357E

c.1070G>A

1 paper

NM_212482.4

p.E358insFs

c.1073_1074insC

1 paper

NM_212482.4

p.E358_P359insFs

c.1074_1075insC

1 paper

NM_212482.4

p.C360Y

c.1079G>A

1 paper

NM_212482.4

p.P363S

c.1087C>T

1 paper

NM_212482.4

p.F364S

c.1091T>C

1 paper

NM_212482.4

p.F364_T365insFs

c.1092_1093insC

1 paper

NM_212482.4

p.G368_R369insFs

c.1104_1105insT