Varaico: Literature-Extracted Genetic Variants

LUM

53 papers

RefSeq Summary

This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, t...

Pfam Domains

LRRNTaa 36–66UCSCLeucine rich repeat N-terminal domain

LRR_8aa 66–128UCSCLeucine rich repeat

LRR_8aa 136–171UCSCLeucine rich repeat

LRR_6aa 182–197UCSCLeucine Rich repeat

LRR_8aa 205–266UCSCLeucine rich repeat

Gene Aliases

HGNC Name

lumican

HGNC Alias Symbol

SLRR2D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002345.4

p.E156Q

c.466G>C

Surrounding Variants

1 paper

NM_002345.4

p.L161R

c.482T>G

1 paper

NM_002345.4

p.L142P

c.425T>C

1 paper

NM_002345.4

p.R170R

c.510G>A

1 paper

NM_002345.4

p.Q195K

c.583C>A

5 papers

NM_002345.4

p.L199P

c.596T>C

1 paper

NM_002345.4

p.S201P

c.601T>C

1 paper

NM_002345.4

p.Y211D

c.631T>G

1 paper

NM_002345.4

p.D213N

c.637G>A

1 paper

NM_002345.4

p.D222N

c.664G>A

1 paper

NM_002345.4

p.Y224C

c.671A>G

1 paper

NM_002345.4

p.R227H

c.680G>A

1 paper

NM_002345.4

p.Y233H

c.697T>C