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.L191L

c.573C>T

Surrounding Variants

1 paper

NM_007035.4

p.Q196K

c.586C>A

1 paper

NM_007035.4

p.K201R

c.602A>G

1 paper

NM_007035.4

p.V179V

c.537G>T

1 paper

NM_007035.4

p.N176K

c.528C>G

1 paper

NM_007035.4

p.N176K

c.528C>A

2 papers

NM_007035.4

p.P208R

c.623C>G

4 papers

NM_007035.4

p.Q174*

c.520C>T

1 paper

NM_007035.4

p.L173P

c.518T>C

1 paper

NM_007035.4

p.L173L

c.517C>T

1 paper

NM_007035.4

p.L173I

c.517C>A

1 paper

NM_007035.4

p.T169N

c.506C>A

1 paper

NM_007035.4

p.L168V

c.502C>G