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.L162fs

c.484_485fs

Surrounding Variants

1 paper

NM_001164211.2

p.L162V

c.484C>G

1 paper

NM_001164211.2

p.A157_L158delFs

c.471_474del4

1 paper

NM_001164211.2

p.R152Q

c.455G>A

2 papers

NM_001164211.2

p.L193R

c.578T>G