Varaico: Literature-Extracted Genetic Variants

LRRC32

116 papers

RefSeq Summary

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008...

Pfam Domains

LRRNTaa 21–48UCSCLeucine rich repeat N-terminal domain

LRR_8aa 49–109UCSCLeucine rich repeat

LRR_8aa 149–209UCSCLeucine rich repeat

LRR_8aa 514–573UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 32

HGNC Previous Symbols

D11S833E; GARP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001128922.2

p.F233Y

c.698T>A

Surrounding Variants

1 paper

NM_001128922.2

p.F233C

c.698T>G

1 paper

NM_001128922.2

p.Q234insFs

c.701dupA

1 paper

NM_001128922.2

p.Q234Q

c.702G>A

1 paper

NM_001128922.2

p.E231Q

c.691G>C

1 paper

NM_001128922.2

p.Q219_L220delFs

c.656_659del4

1 paper

NM_001128922.2

p.W247*

c.740G>A

1 paper

NM_001128922.2

p.W247*

c.741G>A

1 paper

NM_001128922.2

p.H201Y

c.601C>T

1 paper

NM_001128922.2

p.L199M

c.595C>A

2 papers

NM_001128922.2

p.G195G

c.585T>C

1 paper

NM_001128922.2

p.E194D

c.582G>T

1 paper

NM_001128922.2

p.A192T

c.574G>A