Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.A1605V

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.A1605V
c.4814C>T
Surrounding Variants
1 paper
NM_025074.7
p.R1603W
c.4807C>T
1 paper
NM_025074.7
p.Q1592K
c.4774C>A
1 paper
NM_025074.7
p.Q1592*
c.4774C>T
1 paper
NM_025074.7
p.S1590G
c.4768A>G
1 paper
NM_025074.7
p.L1634delFs
c.4901delT
1 paper
NM_025074.7
p.R1635Q
c.4904G>A
1 paper
NM_025074.7
p.P1653P
c.4959G>C
1 paper
NM_025074.7
p.A1655T
c.4963G>A
1 paper
NM_025074.7
p.N1668S
c.5003A>G
4 papers
NM_025074.7
p.D1682E
c.5046C>A
4 papers
NM_025074.7
p.D1682E
c.5046C>G
1 paper
NM_025074.7
p.G1691D
c.5072G>A
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