Varaico: Literature-Extracted Genetic Variants

C4BPA

234 papers

RefSeq Summary

This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seve...

Pfam Domains

Sushiaa 50–108UCSCSushi repeat (SCR repeat)

Sushiaa 113–170UCSCSushi repeat (SCR repeat)

Sushiaa 175–234UCSCSushi repeat (SCR repeat)

Sushiaa 239–294UCSCSushi repeat (SCR repeat)

Sushiaa 299–361UCSCSushi repeat (SCR repeat)

Sushiaa 365–422UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement component 4 binding protein alpha

HGNC Previous Symbol

C4BP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000715.4

p.V124A

c.371T>C

Surrounding Variants

1 paper

NM_000715.4

p.E125G

c.374A>G

1 paper

NM_000715.4

p.I126T

c.377T>C

2 papers

NM_000715.4

p.R120H

c.359G>A

1 paper

NM_000715.4

p.R120C

c.358C>T

1 paper

NM_000715.4

p.D129G

c.386A>G

1 paper

NM_000715.4

p.L119S

c.356T>C

1 paper

NM_000715.4

p.L119*

c.356T>G

1 paper

NM_000715.4

p.G117R

c.349G>A

1 paper

NM_000715.4

p.H115Q

c.345C>A

1 paper

NM_000715.4

p.H115Q

c.345C>G

1 paper

NM_000715.4

p.G133R

c.397G>A

1 paper

NM_000715.4

p.G133R

c.397G>C