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

4 papers

NM_001267.3

p.A342D

c.1025C>A

Surrounding Variants

1 paper

NM_001267.3

p.R344H

c.1031G>A

1 paper

NM_001267.3

p.T340M

c.1019C>T

1 paper

NM_001267.3

p.C346G

c.1036T>G

1 paper

NM_001267.3

p.T350I

c.1049C>T

1 paper

NM_001267.3

p.R321H

c.962G>A

1 paper

NM_001267.3

p.R313W

c.937C>T

1 paper

NM_001267.3

p.R313W

c.937C>T

1 paper

NM_001267.3

p.R279R

c.837C>A

1 paper

NM_001267.3

p.T269T

c.807G>A

1 paper

NM_001267.3

p.K258_F259Splc

c.774+2T>G

1 paper

NM_001267.3

p.Y245*

c.735C>G

1 paper

NM_001267.3

p.Y245*

c.735C>A