Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.L259R

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
4 papers
NM_025074.7
p.L259R
c.776T>G
Surrounding Variants
1 paper
NM_025074.7
p.G262R
c.784G>A
1 paper
NM_025074.7
p.G262R
c.784G>C
1 paper
NM_025074.7
p.K263M
c.788A>T
1 paper
NM_025074.7
p.R246Q
c.737G>A
1 paper
NM_025074.7
p.G247insFs
c.740dupG
1 paper
NM_025074.7
p.I243M
c.729A>G
1 paper
NM_025074.7
p.I243V
c.727A>G
1 paper
NM_025074.7
p.R269Q
c.806G>A
1 paper
NM_025074.7
p.R270H
c.809G>A
1 paper
NM_025074.7
p.C278S
c.832T>A
1 paper
NM_025074.7
p.C278S
c.833G>C
1 paper
NM_025074.7
p.S280F
c.839C>T
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