Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.F458I

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
1 paper
NM_025074.7
p.F458I
c.1372T>A
Surrounding Variants
4 papers
NM_025074.7
p.L466I
c.1396T>A
1 paper
NM_025074.7
p.A467D
c.1400C>A
1 paper
NM_025074.7
p.G448E
c.1343G>A
1 paper
NM_025074.7
p.D436N
c.1306G>A
1 paper
NM_025074.7
p.S429Y
c.1286C>A
1 paper
NM_025074.7
p.C413R
c.1237T>C
2 papers
NM_025074.7
p.Q411fs
c.1231_1232fs
1 paper
NM_025074.7
p.G410E
c.1229G>A
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
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