Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA
Variant:p.Y106D

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
Selected Variant
2 papers
NM_001305581.2
p.Y106D
c.316T>G
Surrounding Variants
1 paper
NM_001305581.2
p.L104L
c.310C>T
3 papers
NM_001305581.2
p.P116S
c.346C>T
2 papers
NM_001305581.2
p.N117K
c.351C>A
2 papers
NM_001305581.2
p.N117K
c.351C>G
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