Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.R173Q

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
4 papers
NM_025074.7
p.R173Q
c.518G>A
Surrounding Variants
1 paper
NM_025074.7
p.L174_A178Fs
c.522_534delinsGGFs
1 paper
NM_025074.7
p.R176Q
c.527G>A
1 paper
NM_025074.7
p.G169R
c.505G>A
1 paper
NM_025074.7
p.G169R
c.505G>C
1 paper
NM_025074.7
p.C182*
c.546T>A
1 paper
NM_025074.7
p.R183fs
c.547_548fs
1 paper
NM_025074.7
p.R183*
c.547A>T
1 paper
NM_025074.7
p.N184delFs
c.550delA
1 paper
NM_025074.7
p.G185R
c.553G>A
1 paper
NM_025074.7
p.A187V
c.560C>T
1 paper
NM_025074.7
p.Q188*
c.562C>T
1 paper
NM_025074.7
p.T191K
c.572C>A
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