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.G47G

c.141T>C

Surrounding Variants

1 paper

NM_001164211.2

p.G62S

c.184G>A

2 papers

NM_001164211.2

p.H33del1

c.97_98delCAT

2 papers

NM_001164211.2

p.H31Y

c.91C>T

1 paper

NM_001164211.2

p.P26H

c.77C>A

1 paper

NM_001164211.2

p.H32_H33ins0

c.96_98dupCCA

2 papers

NM_001164211.2

p.H32_H33del1

c.96_98delCCA

1 paper

NM_001164211.2

p.H25Q

c.75T>A

1 paper

NM_001164211.2

p.H25Q

c.75T>G

1 paper

NM_001164211.2

p.M1K

c.2T>A

2 papers

NM_001164211.2

p.L96_D98del3

c.286_293del9