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.H465Y

c.1393C>T

Surrounding Variants

1 paper

NM_001128922.2

p.A460S

c.1378G>T

1 paper

NM_001128922.2

p.L458P

c.1373T>C

1 paper

NM_001128922.2

p.D472fs

c.1414_1415fs

1 paper

NM_001128922.2

p.T483M

c.1448C>T

1 paper

NM_001128922.2

p.R446H

c.1337G>A

1 paper

NM_001128922.2

p.R421Q

c.1262G>A

1 paper

NM_001128922.2

p.Q418E

c.1252C>G

2 papers

NM_001128922.2

p.R414Q

c.1241G>A

1 paper

NM_001128922.2

p.R414W

c.1240C>T

1 paper

NM_001128922.2

p.Q413insFs

c.1238_1239insA

3 papers

NM_001128922.2

p.R518W

c.1552C>T

1 paper

NM_001128922.2

p.S411R

c.1233C>G