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.E229Splc

c.686-421A>G

Surrounding Variants

1 paper

NM_001164211.2

p.S234P

c.700T>C

1 paper

NM_001164211.2

p.N243I

c.728A>T

1 paper

NM_001164211.2

p.K244E

c.730A>G

1 paper

NM_001164211.2

p.L263P

c.788T>C

1 paper

NM_001164211.2

p.H282P

c.845A>C

1 paper

NM_001164211.2

p.S288C

c.862A>T

1 paper

NM_001164211.2

p.V314M

c.940G>A

1 paper

NM_001164211.2

p.Q206K

c.616C>A

1 paper

NM_001164211.2

p.S352L

c.1055C>T

1 paper

NM_001164211.2

p.T401A

c.1201A>G

1 paper

NM_001164211.2

p.L407H

c.1220T>A