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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRMDA

Variant:p.S198G

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:76324476 A>G

NM_001305581.2

p.S198G

c.592A>G

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=6, hom=0)32 overlapping SVs

Surrounding Variants

1 paper

chr10:76324474 C>A

NM_001305581.2

p.T197N

c.590C>A

exact variant not in gnomAD32 overlapping SVs

4 papers

chr10:76324459 C>A

NM_001305581.2

p.A192D

c.575C>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr10:76324426 C>T

NM_001305581.2

p.S181F

c.542C>T

Exome: 1.8% (AC=26340, hom=554)Genome: 4.0% (AC=6072, hom=224)32 overlapping SVs

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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."