Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.T299M

OCA2

712 papers

RefSeq Summary

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyro...

Pfam Domains

CitMHSaa 342–775UCSCCitrate transporter

Gene Aliases

HGNC Name

OCA2 melanosomal transmembrane protein

HGNC Previous Symbols

D15S12; EYCL3; EYCL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000275.3
p.T299M
c.896C>T
Surrounding Variants
1 paper
NM_000275.3
p.V300M
c.898G>A
3 papers
NM_000275.3
p.V300fs
c.898_899fs
3 papers
NM_000275.3
p.V300insFs
c.898dupG
1 paper
NM_000275.3
p.I302T
c.905T>C
1 paper
NM_000275.3
p.I302N
c.905T>A
1 paper
NM_000275.3
p.S303C
c.907A>T
2 papers
NM_000275.3
p.I304S
c.911T>G
1 paper
NM_000275.3
p.I304T
c.911T>C
52 papers
NM_000275.3
p.R305W
c.913C>T
2 papers
NM_000275.3
p.R305P
c.914G>C
3 papers
NM_000275.3
p.R305Q
c.914G>A
1 paper
NM_000275.3
p.L308L
c.922C>T
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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."