Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.V2322fs

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
3 papers
NM_025074.7
p.V2322fs
c.6964_6965fs
Surrounding Variants
1 paper
NM_025074.7
p.V2322fs
c.6964_6965fs
1 paper
NM_025074.7
p.R2321Q
c.6962G>A
3 papers
NM_025074.7
p.R2321_V2322insFs
c.6963_6964dupGG
1 paper
NM_025074.7
p.R2321W
c.6961C>T
1 paper
NM_025074.7
p.E2324fs
c.6970_6971fs
1 paper
NM_025074.7
p.G2319V
c.6956G>T
1 paper
NM_025074.7
p.G2319R
c.6955G>A
1 paper
NM_025074.7
p.G2319R
c.6955G>C
1 paper
NM_025074.7
p.P2313P
c.6939C>T
3 papers
NM_025074.7
p.T2331insFs
c.6992_6993insGG
1 paper
NM_025074.7
p.D2309N
c.6925G>A
1 paper
NM_025074.7
p.V2308V
c.6924C>T
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