Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.D1682E

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.D1682E
c.5046C>A
Surrounding Variants
4 papers
NM_025074.7
p.D1682E
c.5046C>G
1 paper
NM_025074.7
p.G1691D
c.5072G>A
1 paper
NM_025074.7
p.N1668S
c.5003A>G
1 paper
NM_025074.7
p.R1709*
c.5125C>T
1 paper
NM_025074.7
p.R1712*
c.5134C>T
2 papers
NM_025074.7
p.H1735Q
c.5205C>A
1 paper
NM_025074.7
p.H1735Q
c.5205C>G
2 papers
NM_025074.7
p.V1739_D1740Splc
c.5217+1G>C
1 paper
NM_025074.7
p.A1655T
c.4963G>A
1 paper
NM_025074.7
p.P1653P
c.4959G>C
1 paper
NM_025074.7
p.R1635Q
c.4904G>A
1 paper
NM_025074.7
p.L1634delFs
c.4901delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."