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.C48W

c.144C>G

Surrounding Variants

1 paper

NM_007035.4

p.F47L

c.141C>G

1 paper

NM_007035.4

p.N60I

c.179A>T

1 paper

NM_007035.4

p.N60K

c.180T>A

1 paper

NM_007035.4

p.R61K

c.182G>A

1 paper

NM_007035.4

p.D34H

c.100G>C

1 paper

NM_007035.4

p.H30R

c.89A>G

1 paper

NM_007035.4

p.V29A

c.86T>C

1 paper

NM_007035.4

p.A68V

c.203C>T

2 papers

NM_007035.4

p.I69I

c.207T>C

3 papers

NM_007035.4

p.P70L

c.209C>T

1 paper

NM_007035.4

p.Q25Q

c.75G>A

1 paper

NM_007035.4

p.R21_R24del4

c.61_71del12