Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.M40I

TYRP1

1,096 papers

RefSeq Summary

This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneou...

Pfam Domains

Tyrosinaseaa 182–417UCSCCommon central domain of tyrosinase

Gene Aliases

HGNC Name

tyrosinase related protein 1

HGNC Previous Symbol

CAS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000550.3
p.M40I
c.120G>C
Surrounding Variants
11 papers
NM_000550.3
p.C41S
c.121T>A
1 paper
NM_000550.3
p.M40K
c.119T>A
2 papers
NM_000550.3
p.C41G
c.121T>G
1 paper
NM_000550.3
p.M40_C41insFs
c.120_121insG
1 paper
NM_000550.3
p.M40V
c.118A>G
9 papers
NM_000550.3
p.C41S
c.122G>C
3 papers
NM_000550.3
p.G39G
c.117T>A
1 paper
NM_000550.3
p.C41*
c.123T>A
1 paper
NM_000550.3
p.G39A
c.116G>C
4 papers
NM_000550.3
p.C42S
c.124T>A
1 paper
NM_000550.3
p.C42Y
c.125G>A
2 papers
NM_000550.3
p.C42S
c.125G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."