Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA
Variant:p.L74L

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
1 paper
NM_001305581.2
p.L74L
c.220T>C
Surrounding Variants
1 paper
NM_001305581.2
p.P72delFs
c.216delA
2 papers
NM_001305581.2
p.R86*
c.256C>T
1 paper
NM_032024.5
p.L30P
c.89T>C
1 paper
NM_001305581.2
p.R53fs
c.157_158fs
2 papers
NM_001305581.2
p.A51fs
c.151_152fs
5 papers
NM_032024.5
p.A23fs
c.67_68fs
NM_001305581.2
p.A51fs
c.151_152fs
5 papers
NM_032024.5
p.S22insFs
c.66dupC
NM_001305581.2
p.S50insFs
c.150dupC
1 paper
NM_001305581.2
p.R44Splc
c.132-664G>A
1 paper
NM_001305581.2
p.R44Splc
c.132-1050A>G
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