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

10 papers

NM_007035.4

p.R313*

c.937C>T

Surrounding Variants

1 paper

NM_007035.4

p.E312V

c.935A>T

2 papers

NM_007035.4

p.S315S

c.945C>T

1 paper

NM_007035.4

p.S307C

c.920C>G

1 paper

NM_007035.4

p.S307Y

c.920C>A

1 paper

NM_007035.4

p.S305C

c.913A>T

1 paper

NM_007035.4

p.L322F

c.964C>T

1 paper

NM_007035.4

p.R323H

c.968G>A

1 paper

NM_007035.4

p.R323R

c.969C>T

1 paper

NM_007035.4

p.L325P

c.974T>C

1 paper

NM_007035.4

p.R326C

c.976C>T

1 paper

NM_007035.4

p.S296Splc

c.887-1G>A

2 papers

NM_007035.4

p.S296Splc

c.887-2A>G