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.A240A

c.720C>A

Surrounding Variants

1 paper

NM_007035.4

p.K238_V239insCC

c.712_716ins6

1 paper

NM_007035.4

p.P237_K238insCCA

c.709_713ins9

11 papers

NM_007035.4

p.N247S

c.740A>G

1 paper

NM_007035.4

p.K248N

c.744A>T

1 paper

NM_007035.4

p.K248N

c.744A>C

2 papers

NM_007035.4

p.E230K

c.688G>A

1 paper

NM_007035.4

p.P229L

c.686C>T

2 papers

NM_007035.4

p.L254F

c.760C>T

1 paper

NM_007035.4

p.E226delFs

c.676delC

1 paper

NM_007035.4

p.E226fs

c.676_677fs

1 paper

NM_007035.4

p.P255P

c.765A>G

4 papers

NM_007035.4

p.I225T

c.674T>C