Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.A817V

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.A817V
c.2450C>T
Surrounding Variants
1 paper
NM_025074.7
p.A817fs
c.2449_2450fs
1 paper
NM_025074.7
p.A818V
c.2453C>T
1 paper
NM_025074.7
p.D819Y
c.2455G>T
1 paper
NM_025074.7
p.H810Q
c.2430T>A
1 paper
NM_025074.7
p.H810Q
c.2430T>G
1 paper
NM_025074.7
p.I826N
c.2477T>A
1 paper
NM_025074.7
p.Y850H
c.2548T>C
1 paper
NM_025074.7
p.C857F
c.2570G>T
1 paper
NM_025074.7
p.V883M
c.2647G>A
1 paper
NM_025074.7
p.T892I
c.2675C>T
4 papers
NM_025074.7
p.Q907*
c.2719C>T
2 papers
NM_025074.7
p.Q907delFs
c.2721delG
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