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.S340F

c.1019C>T

Surrounding Variants

1 paper

NM_001128922.2

p.C342R

c.1024T>C

1 paper

NM_001128922.2

p.E336*

c.1006G>T

1 paper

NM_001128922.2

p.R358C

c.1072C>T

1 paper

NM_001128922.2

p.R358G

c.1072C>G

1 paper

NM_001128922.2

p.R358H

c.1073G>A

2 papers

NM_001128922.2

p.R312C

c.934C>T

1 paper

NM_001128922.2

p.G311A

c.932G>C

1 paper

NM_001128922.2

p.A374S

c.1120G>T

1 paper

NM_001128922.2

p.S306S

c.918C>T

1 paper

NM_001128922.2

p.P305A

c.913C>G

1 paper

NM_001128922.2

p.P301L

c.902C>T

1 paper

NM_001128922.2

p.G381R

c.1141G>C