Varaico: Literature-Extracted Genetic Variants

CHAD

44 papers

RefSeq Summary

Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin me...

Pfam Domains

LRRNTaa 22–50UCSCLeucine rich repeat N-terminal domain

LRR_8aa 75–135UCSCLeucine rich repeat

LRR_8aa 147–207UCSCLeucine rich repeat

LRR_8aa 244–301UCSCLeucine rich repeat

Gene Aliases

HGNC Name

chondroadherin

HGNC Alias Symbol

SLRR4A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001267.3

p.Y245*

c.735C>A

Surrounding Variants

1 paper

NM_001267.3

p.Y245*

c.735C>G

1 paper

NM_001267.3

p.K258_F259Splc

c.774+2T>G

1 paper

NM_001267.3

p.R219W

c.655C>T

1 paper

NM_001267.3

p.A213V

c.638C>T

1 paper

NM_001267.3

p.L197I

c.589C>A

1 paper

NM_001267.3

p.D193D

c.579C>T

1 paper

NM_001267.3

p.E180K

c.538G>A

1 paper

NM_001267.3

p.D172D

c.516C>T

1 paper

NM_001267.3

p.I151N

c.452T>A

1 paper

NM_001267.3

p.L149I

c.445C>A

1 paper

NM_001267.3

p.R140W

c.418C>T

1 paper

NM_001267.3

p.D120G

c.359A>G