Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.H2370H

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.H2370H
c.7110C>T
Surrounding Variants
5 papers
NM_025074.7
p.K2378E
c.7132A>G
1 paper
NM_025074.7
p.K2378*
c.7132A>T
1 paper
NM_025074.7
p.I2360M
c.7080C>G
1 paper
NM_025074.7
p.G2391S
c.7171G>A
1 paper
NM_025074.7
p.F2399L
c.7195T>C
1 paper
NM_025074.7
p.E2343_A2344Splc
c.7030-6G>A
1 paper
NM_025074.7
p.F2399L
c.7197C>A
1 paper
NM_025074.7
p.F2399L
c.7197C>G
1 paper
NM_025074.7
p.P2409T
c.7225C>A
1 paper
NM_025074.7
p.K2418K
c.7254A>G
1 paper
NM_025074.7
p.E2343_A2344Splc
c.7029+7G>A
1 paper
NM_025074.7
p.E2343*
c.7027G>T
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