Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.M3351I

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.M3351I
c.10053G>A
Surrounding Variants
1 paper
NM_025074.7
p.M3351I
c.10053G>C
1 paper
NM_025074.7
p.M3351I
c.10053G>T
2 papers
NM_025074.7
p.H3347Q
c.10041C>A
2 papers
NM_025074.7
p.H3347Q
c.10041C>G
1 paper
NM_025074.7
p.S3356F
c.10067C>T
1 paper
NM_025074.7
p.P3359L
c.10076C>T
1 paper
NM_025074.7
p.V3377A
c.10130T>C
1 paper
NM_025074.7
p.V3382G
c.10145T>G
2 papers
NM_025074.7
p.Y3385D
c.10153T>G
3 papers
NM_025074.7
p.L3387P
c.10160T>C
2 papers
NM_025074.7
p.L3387L
c.10161G>C
1 paper
NM_025074.7
p.N3337N
c.10011C>T
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