Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.A44S

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.A44S
c.130G>T
Surrounding Variants
1 paper
NM_212482.4
p.A44P
c.130G>C
3 papers
NM_212482.4
p.A44T
c.130G>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.P42delFs
c.126delC
1 paper
NM_212482.4
p.V43M
c.127G>A
1 paper
NM_212482.4
p.P42delFs
c.124_125delGG
1 paper
NM_212482.4
p.P42L
c.125C>T
3 papers
NM_212482.4
p.P42R
c.125C>G
1 paper
NM_212482.4
p.P42S
c.124C>T
1 paper
NM_212482.4
p.S46R
c.138T>A
1 paper
NM_212482.4
p.Q47*
c.139C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."