Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.P629delFs

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
2 papers
NM_025074.7
p.P629delFs
c.1887delC
Surrounding Variants
1 paper
NM_025074.7
p.S627fs
c.1879_1880fs
1 paper
NM_025074.7
p.P629R
c.1886C>G
1 paper
NM_025074.7
p.A625_K630del0
c.1875_1889del15
1 paper
NM_025074.7
p.K630fs
c.1888_1889fs
1 paper
NM_025074.7
p.A631fs
c.1891_1892fs
1 paper
NM_025074.7
p.A631_Q634delFs
c.1892_1902del11
1 paper
NM_025074.7
p.H622Q
c.1866C>A
1 paper
NM_025074.7
p.H622Q
c.1866C>G
1 paper
NM_025074.7
p.S621C
c.1862C>G
1 paper
NM_025074.7
p.P620L
c.1859C>T
1 paper
NM_025074.7
p.C615S
c.1844G>C
1 paper
NM_025074.7
p.C615S
c.1843T>A
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."