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.N546H

c.1636A>C

Surrounding Variants

4 papers

NM_001128922.2

p.R544*

c.1630C>T

1 paper

NM_001128922.2

p.S549I

c.1646G>T

1 paper

NM_001128922.2

p.P530L

c.1589C>T

1 paper

NM_001128922.2

p.R564W

c.1690C>T

3 papers

NM_001128922.2

p.R518W

c.1552C>T

1 paper

NM_001128922.2

p.L581fs

c.1741_1742fs

1 paper

NM_001128922.2

p.T483M

c.1448C>T

1 paper

NM_001128922.2

p.S609F

c.1826C>T

1 paper

NM_001128922.2

p.P615S

c.1843C>T

1 paper

NM_001128922.2

p.D472fs

c.1414_1415fs

1 paper

NM_001128922.2

p.H465Y

c.1393C>T

1 paper

NM_001128922.2

p.A460S

c.1378G>T