Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.V3626A

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
5 papers
NM_025074.7
p.V3626A
c.10877T>C
Surrounding Variants
1 paper
NM_025074.7
p.H3638Y
c.10912C>T
1 paper
NM_025074.7
p.Y3610*
c.10830C>A
1 paper
NM_025074.7
p.Y3610*
c.10830C>G
1 paper
NM_025074.7
p.Y3610ins1
c.10829_10830insGTA
1 paper
NM_025074.7
p.H3592R
c.10775A>G
1 paper
NM_025074.7
p.P3591P
c.10773A>G
2 papers
NM_025074.7
p.F3588L
c.10762T>C
2 papers
NM_025074.7
p.A3585T
c.10753G>A
1 paper
NM_025074.7
p.W3583*
c.10749G>A
1 paper
NM_025074.7
p.W3583*
c.10748G>A
4 papers
NM_025074.7
p.V3566I
c.10696G>A
2 papers
NM_025074.7
p.E3561D
c.10683A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."