Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA

LRMDA

45 papers

RefSeq Summary

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculo...

Pfam Domains

LRR_9aa 5–150UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

leucine rich melanocyte differentiation associated

HGNC Previous Symbol

C10orf11

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
4 papers
NM_001305581.2
p.A192D
c.575C>A
3 papers
NM_032024.5
p.S22insFs
c.66dupC
3 papers
NM_032024.5
p.A23fs
c.67_68fs
3 papers
NM_001305581.2
p.P116S
c.346C>T
2 papers
NM_001305581.2
p.S50insFs
c.150dupC
2 papers
NM_001305581.2
p.A51fs
c.151_152fs
2 papers
NM_001305581.2
p.A51fs
c.151_152fs
2 papers
NM_001305581.2
p.R86*
c.256C>T
2 papers
NM_001305581.2
p.Y106D
c.316T>G
2 papers
NM_001305581.2
p.N117K
c.351C>A
2 papers
NM_001305581.2
p.N117K
c.351C>G
2 papers
NM_001305581.2
p.R156*
c.466C>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."