Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.T126delFs

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.T126delFs
c.377delC
Surrounding Variants
3 papers
NM_025074.7
p.P127R
c.380C>G
7 papers
NM_025074.7
p.R124*
c.370C>T
1 paper
NM_025074.7
p.E122K
c.364G>A
1 paper
NM_025074.7
p.E122Q
c.364G>C
1 paper
NM_025074.7
p.C130G
c.388T>G
1 paper
NM_025074.7
p.C116Y
c.347G>A
1 paper
NM_025074.7
p.V115V
c.345G>A
1 paper
NM_025074.7
p.A141E
c.422C>A
1 paper
NM_025074.7
p.A141G
c.422C>G
1 paper
NM_025074.7
p.F142L
c.426C>A
1 paper
NM_025074.7
p.A109G
c.326C>G
1 paper
NM_025074.7
p.W108L
c.323G>T
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