Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.E1495K

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.E1495K
c.4483G>A
Surrounding Variants
1 paper
NM_025074.7
p.K1496R
c.4487A>G
1 paper
NM_025074.7
p.S1490F
c.4469C>T
1 paper
NM_025074.7
p.L1489delFs
c.4465delC
1 paper
NM_025074.7
p.V1502V
c.4506C>G
1 paper
NM_025074.7
p.R1477S
c.4431A>C
1 paper
NM_025074.7
p.R1477S
c.4431A>T
6 papers
NM_025074.7
p.R1527W
c.4579C>T
2 papers
NM_025074.7
p.R1527Q
c.4580G>A
1 paper
NM_025074.7
p.R1542H
c.4625G>A
1 paper
NM_025074.7
p.P1545L
c.4634C>T
1 paper
NM_025074.7
p.A1546E
c.4637C>A
1 paper
NM_025074.7
p.P1548A
c.4642C>G
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