Varaico: Literature-Extracted Genetic Variants

C4BPB

90 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. A single, unique beta-chain encoded by this ...

Pfam Domains

Sushiaa 23–76UCSCSushi repeat (SCR repeat)

Sushiaa 81–134UCSCSushi repeat (SCR repeat)

Sushiaa 139–191UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement component 4 binding protein beta

HGNC Previous Symbol

C4BP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001017365.3

p.E217K

c.649G>A

Surrounding Variants

1 paper

NM_001017365.3

p.C216R

c.646T>C

1 paper

NM_001017365.3

p.E220K

c.658G>A

1 paper

NM_001017365.3

p.F222S

c.665T>C

1 paper

NM_001017365.3

p.E211*

c.631G>T

1 paper

NM_001017365.3

p.M223T

c.668T>C

1 paper

NM_001017365.3

p.A208D

c.623C>A

2 papers

NM_001017365.3

p.T232A

c.694A>G

1 paper

NM_001017365.3

p.L206R

c.617T>G

1 paper

NM_001017365.3

p.K204R

c.611A>G

1 paper

NM_001017365.3

p.P198S

c.592C>T

1 paper

NM_001017365.3

p.P189S

c.565C>T

1 paper

NM_001017365.3

p.D181A

c.542A>C