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

2 papers

NM_007035.4

p.I107R

c.320T>G

Surrounding Variants

2 papers

NM_007035.4

p.Y110Y

c.330C>T

2 papers

NM_007035.4

p.G111R

c.331G>C

2 papers

NM_007035.4

p.G111R

c.331G>A

1 paper

NM_007035.4

p.L102I

c.304C>A

1 paper

NM_007035.4

p.N101N

c.303T>C

1 paper

NM_007035.4

p.K114N

c.342A>T

1 paper

NM_007035.4

p.K114N

c.342A>C

1 paper

NM_007035.4

p.G115*

c.343G>T

1 paper

NM_007035.4

p.G115E

c.344G>A

1 paper

NM_007035.4

p.A116A

c.348C>G

1 paper

NM_007035.4

p.L117Q

c.350T>A

1 paper

NM_007035.4

p.S118N

c.353G>A