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.Q47*

c.139C>T

Surrounding Variants

1 paper

NM_212482.4

p.S46R

c.138T>A

1 paper

NM_212482.4

p.Q47R

c.140A>G

1 paper

NM_212482.4

p.Q47fs

c.139_140fs

1 paper

NM_212482.4

p.S48I

c.143G>T

1 paper

NM_212482.4

p.S48R

c.144C>A

1 paper

NM_212482.4

p.A44D

c.131C>A

1 paper

NM_212482.4

p.A44delFs

c.130delC

1 paper

NM_212482.4

p.A44S

c.130G>T

1 paper

NM_212482.4

p.A44P

c.130G>C

3 papers

NM_212482.4

p.A44T

c.130G>A

5 papers

NM_212482.4

p.P50S

c.148C>T

1 paper

NM_212482.4

p.P50Splc

c.148+1G>A