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.R279Q

c.836G>A

Surrounding Variants

10 papers

NM_007035.4

p.R279*

c.835C>T

1 paper

NM_007035.4

p.S281I

c.842G>T

1 paper

NM_007035.4

p.S281N

c.842G>A

1 paper

NM_007035.4

p.V277F

c.829G>T

1 paper

NM_007035.4

p.V277I

c.829G>A

1 paper

NM_007035.4

p.D266_N272del0

c.797_814del18

1 paper

NM_007035.4

p.N272I

c.815A>T

1 paper

NM_007035.4

p.H286delFs

c.856delG

2 papers

NM_007035.4

p.S270L

c.809C>T

1 paper

NM_007035.4

p.D290N

c.868G>A

1 paper

NM_007035.4

p.H291Q

c.873T>G

1 paper

NM_007035.4

p.H291Q

c.873T>A