Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.Q411fs

FRAS1

386 papers

RefSeq Summary

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause ...

Gene Aliases

HGNC Name

Fraser extracellular matrix complex subunit 1

HGNC Alias Symbols

FLJ22031; FLJ14927; KIAA1500

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025074.7
p.Q411fs
c.1231_1232fs
Surrounding Variants
1 paper
NM_025074.7
p.G410E
c.1229G>A
1 paper
NM_025074.7
p.C413R
c.1237T>C
2 papers
NM_025074.7
p.K409insFs
c.1226dupA
1 paper
NM_025074.7
p.T403I
c.1208C>T
1 paper
NM_025074.7
p.Y392*
c.1176C>A
1 paper
NM_025074.7
p.Y392*
c.1176C>G
1 paper
NM_025074.7
p.V389I
c.1165G>A
2 papers
NM_025074.7
p.R385*
c.1153C>T
1 paper
NM_025074.7
p.V381A
c.1142T>C
1 paper
NM_025074.7
p.C379*
c.1137C>A
1 paper
NM_025074.7
p.P378H
c.1133C>A
1 paper
NM_025074.7
p.P378insFs
c.1132dupC
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