Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1

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
1–12 of 630 variants
8 papers
NM_025074.7
p.R3269Q
c.9806G>A
7 papers
NM_025074.7
p.R124*
c.370C>T
6 papers
NM_025074.7
p.R1527W
c.4579C>T
6 papers
NM_025074.7
p.L1550F
c.4648C>T
5 papers
NM_025074.7
p.D687G
c.2060A>G
5 papers
NM_025074.7
p.K2378E
c.7132A>G
5 papers
NM_025074.7
p.V3626A
c.10877T>C
4 papers
NM_025074.7
p.R173Q
c.518G>A
4 papers
NM_025074.7
p.L259R
c.776T>G
4 papers
NM_025074.7
p.L466I
c.1396T>A
4 papers
NM_025074.7
p.A817V
c.2450C>T
4 papers
NM_025074.7
p.Q907*
c.2719C>T
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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."