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.R163C

c.487C>T

Surrounding Variants

1 paper

NM_001128922.2

p.T165T

c.495C>T

2 papers

NM_001128922.2

p.E158K

c.472G>A

1 paper

NM_001128922.2

p.L156V

c.466C>G

1 paper

NM_001128922.2

p.P149H

c.446C>A

1 paper

NM_001128922.2

p.E147G

c.440A>G

1 paper

NM_001128922.2

p.M186I

c.558G>T

1 paper

NM_001128922.2

p.S135C

c.403A>T

1 paper

NM_001128922.2

p.A192T

c.574G>A

1 paper

NM_001128922.2

p.E194D

c.582G>T

2 papers

NM_001128922.2

p.G195G

c.585T>C

1 paper

NM_001128922.2

p.D130N

c.388G>A

1 paper

NM_001128922.2

p.S128S

c.384C>T