Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.Y451delFs

TYR

1,200 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalyt...

Pfam Domains

Tyrosinaseaa 170–403UCSCCommon central domain of tyrosinase

Gene Aliases

HGNC Name

tyrosinase

HGNC Alias Symbols

OCAIA; OCA1A; OCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000372.5
p.Y451delFs
c.1352delA
Surrounding Variants
1 paper
NM_000372.5
p.Y451fs
c.1351_1352fs
10 papers
NM_000372.5
p.Y451C
c.1352A>G
1 paper
NM_000372.5
p.S450S
c.1350C>T
2 papers
NM_000372.5
p.S450insFs
c.1348_1349insGG
4 papers
NM_000372.5
p.L452V
c.1354C>G
2 papers
NM_000372.5
p.L452Q
c.1355T>A
5 papers
NM_000372.5
p.L452R
c.1355T>G
7 papers
NM_000372.5
p.Y449C
c.1346A>G
13 papers
NM_000372.5
p.Q453*
c.1357C>T
1 paper
NM_000372.5
p.D448_Y449insFs
c.1344_1345insC
20 papers
NM_000372.5
p.D448N
c.1342G>A
2 papers
NM_000372.5
p.D448H
c.1342G>C
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