Varaico: Literature-Extracted Genetic Variants

LRCH1

48 papers

RefSeq Summary

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing res...

Pfam Domains

LRR_8aa 103–155UCSCLeucine rich repeat

LRR_8aa 166–223UCSCLeucine rich repeat

LRR_8aa 211–268UCSCLeucine rich repeat

CHaa 576–692UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

leucine rich repeats and calponin homology domain containing 1

HGNC Previous Symbol

CHDC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164211.2

p.G582E

c.1745G>A

Surrounding Variants

1 paper

NM_001164211.2

p.G546V

c.1637G>T

1 paper

NM_001164211.2

p.T539A

c.1615A>G

1 paper

NM_001164211.2

p.I528M

c.1584T>G

1 paper

NM_001164211.2

p.E527_I528Splc

c.1581+1G>A

1 paper

NM_001164211.2

p.Q620*

c.1858C>T