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.I452N

c.1355T>A

Surrounding Variants

1 paper

NM_001164211.2

p.I452F

c.1354A>T

1 paper

NM_001164211.2

p.M447I

c.1341G>A

1 paper

NM_001164211.2

p.M447I

c.1341G>C

1 paper

NM_001164211.2

p.M447I

c.1341G>T

1 paper

NM_001164211.2

p.D471_E474del4

c.1411_1421del12

1 paper

NM_001164211.2

p.N479S

c.1436A>G

1 paper

NM_001164211.2

p.G484E

c.1451G>A

4 papers

NM_001164211.2

p.A486S

c.1456G>T

1 paper

NM_001164211.2

p.N497Splc

c.1491-2A>T

1 paper

NM_001164211.2

p.E509G

c.1526A>G

1 paper

NM_001164211.2

p.L407H

c.1220T>A

1 paper

NM_001164211.2

p.T401A

c.1201A>G