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.F71L

c.213C>G

Surrounding Variants

1 paper

NM_001128922.2

p.F71L

c.213C>A

1 paper

NM_001128922.2

p.F71L

c.211T>C

1 paper

NM_001128922.2

p.T73T

c.219A>G

1 paper

NM_001128922.2

p.A74T

c.220G>A

1 paper

NM_001128922.2

p.D79E

c.237C>G

1 paper

NM_001128922.2

p.D79E

c.237C>A

1 paper

NM_001128922.2

p.N83K

c.249T>G

1 paper

NM_001128922.2

p.N83K

c.249T>A

1 paper

NM_001128922.2

p.P49del1

c.145_146delTGG

1 paper

NM_001128922.2

p.P48L

c.143C>T

1 paper

NM_001128922.2

p.L47P

c.140T>C

1 paper

NM_001128922.2

p.S103N

c.308G>A