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

1–12 of 104 variants

4 papers

NM_001128922.2

p.A407T

c.1219G>A

4 papers

NM_001128922.2

p.R544*

c.1630C>T

3 papers

NM_001128922.2

p.R278Q

c.833G>A

3 papers

NM_001128922.2

p.R518W

c.1552C>T

2 papers

NM_001128922.2

p.E158K

c.472G>A

2 papers

NM_001128922.2

p.G195G

c.585T>C

2 papers

NM_001128922.2

p.R278W

c.832C>T

2 papers

NM_001128922.2

p.R312C

c.934C>T

2 papers

NM_001128922.2

p.R414Q

c.1241G>A

2 papers

NM_001128922.2

p.R652H

c.1955G>A

1 paper

NM_001128922.2

p.Q4H

c.12G>C

1 paper

NM_001128922.2

p.Q4Q

c.12G>A