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.G258fs

c.772_773fs

Surrounding Variants

1 paper

NM_007035.4

p.P255P

c.765A>G

1 paper

NM_007035.4

p.G258_D260delFs

c.772_779del8

2 papers

NM_007035.4

p.L254F

c.760C>T

1 paper

NM_007035.4

p.L267I

c.799C>A

1 paper

NM_007035.4

p.K248N

c.744A>T

1 paper

NM_007035.4

p.K248N

c.744A>C

11 papers

NM_007035.4

p.N247S

c.740A>G

2 papers

NM_007035.4

p.S270L

c.809C>T

1 paper

NM_007035.4

p.N272I

c.815A>T

1 paper

NM_007035.4

p.D266_N272del0

c.797_814del18

1 paper

NM_007035.4

p.A240A

c.720C>A

1 paper

NM_007035.4

p.V277F

c.829G>T