Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.W3583*

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.W3583*
c.10748G>A
Surrounding Variants
1 paper
NM_025074.7
p.W3583*
c.10749G>A
2 papers
NM_025074.7
p.A3585T
c.10753G>A
2 papers
NM_025074.7
p.F3588L
c.10762T>C
1 paper
NM_025074.7
p.P3591P
c.10773A>G
1 paper
NM_025074.7
p.H3592R
c.10775A>G
4 papers
NM_025074.7
p.V3566I
c.10696G>A
2 papers
NM_025074.7
p.E3561D
c.10683A>C
2 papers
NM_025074.7
p.E3561D
c.10683A>T
1 paper
NM_025074.7
p.R3549T
c.10646G>C
1 paper
NM_025074.7
p.G3536S
c.10606G>A
2 papers
NM_025074.7
p.R3533*
c.10597C>T
1 paper
NM_025074.7
p.I3532V
c.10594A>G
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