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

1–12 of 130 variants

11 papers

NM_007035.4

p.N247S

c.740A>G

10 papers

NM_007035.4

p.R279*

c.835C>T

10 papers

NM_007035.4

p.R313*

c.937C>T

4 papers

NM_007035.4

p.Q174*

c.520C>T

4 papers

NM_007035.4

p.T215K

c.644C>A

4 papers

NM_007035.4

p.I225T

c.674T>C

3 papers

NM_007035.4

p.V23V

c.69G>A

3 papers

NM_007035.4

p.P70L

c.209C>T

2 papers

NM_007035.4

p.I69I

c.207T>C

2 papers

NM_007035.4

p.N81S

c.242A>G

2 papers

NM_007035.4

p.E88G

c.263A>G

2 papers

NM_007035.4

p.I107R

c.320T>G