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

1 paper

NM_001017365.3

p.N144I

c.431A>T

Surrounding Variants

1 paper

NM_001017365.3

p.P145T

c.433C>A

2 papers

NM_001017365.3

p.R137Splc

c.410-12C>T

1 paper

NM_001017365.3

p.G158R

c.472G>A

1 paper

NM_001017365.3

p.G158R

c.472G>C

1 paper

NM_001017365.3

p.S162N

c.485G>A

1 paper

NM_001017365.3

p.Y170F

c.509A>T

1 paper

NM_001017365.3

p.Y170*

c.510C>A

1 paper

NM_001017365.3

p.E176*

c.526G>T

1 paper

NM_001017365.3

p.D181A

c.542A>C

1 paper

NM_001017365.3

p.P189S

c.565C>T

1 paper

NM_001017365.3

p.P198S

c.592C>T

1 paper

NM_001017365.3

p.K204R

c.611A>G