Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.P691delFs

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.P691delFs
c.2073delC
Surrounding Variants
1 paper
NM_025074.7
p.S692fs
c.2074_2075fs
5 papers
NM_025074.7
p.D687G
c.2060A>G
2 papers
NM_025074.7
p.L685R
c.2054T>G
1 paper
NM_025074.7
p.Q684*
c.2050C>T
1 paper
NM_025074.7
p.C670*
c.2010T>A
3 papers
NM_025074.7
p.A713T
c.2137G>A
1 paper
NM_025074.7
p.S657_A661del5
c.1969_1982del15
2 papers
NM_025074.7
p.H649H
c.1947T>C
1 paper
NM_025074.7
p.H649Y
c.1945C>T
2 papers
NM_025074.7
p.F645S
c.1934T>C
1 paper
NM_025074.7
p.R640H
c.1919G>A
3 papers
NM_025074.7
p.R640C
c.1918C>T
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."