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

2 papers

NM_001128922.2

p.R278W

c.832C>T

Surrounding Variants

3 papers

NM_001128922.2

p.R278Q

c.833G>A

1 paper

NM_001128922.2

p.I277N

c.830T>A

1 paper

NM_001128922.2

p.L276P

c.827T>C

1 paper

NM_001128922.2

p.P280S

c.838C>T

1 paper

NM_001128922.2

p.P280L

c.839C>T

1 paper

NM_001128922.2

p.P283L

c.848C>T

1 paper

NM_001128922.2

p.A292T

c.874G>A

1 paper

NM_001128922.2

p.P301L

c.902C>T

1 paper

NM_001128922.2

p.P305A

c.913C>G

1 paper

NM_001128922.2

p.S306S

c.918C>T

1 paper

NM_001128922.2

p.W247*

c.741G>A

1 paper

NM_001128922.2

p.W247*

c.740G>A