Varaico: Literature-Extracted Genetic Variants

KERA

81 papers

RefSeq Summary

The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by ...

Pfam Domains

LRRNTaa 41–70UCSCLeucine rich repeat N-terminal domain

LRR_8aa 71–133UCSCLeucine rich repeat

LRR_8aa 142–204UCSCLeucine rich repeat

LRR_6aa 281–303UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

keratocan

HGNC Previous Symbol

CNA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007035.4

p.Y77H

c.229T>C

Surrounding Variants

1 paper

NM_007035.4

p.Q79_N80ins1

c.237_238insCCA

1 paper

NM_007035.4

p.N80insFs

c.238_239insCC

1 paper

NM_007035.4

p.N80ins1

c.238_239insCCA

1 paper

NM_007035.4

p.N80insFs

c.239_240insCC

2 papers

NM_007035.4

p.N81S

c.242A>G

1 paper

NM_007035.4

p.I83L

c.247A>T

1 paper

NM_007035.4

p.I83V

c.247A>G

1 paper

NM_007035.4

p.I83L

c.247A>C

3 papers

NM_007035.4

p.P70L

c.209C>T

1 paper

NM_007035.4

p.E84K

c.250G>A

2 papers

NM_007035.4

p.I69I

c.207T>C

1 paper

NM_007035.4

p.A68V

c.203C>T