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.L122L

c.366A>G

Surrounding Variants

1 paper

NM_001017365.3

p.C121Y

c.362G>A

1 paper

NM_001017365.3

p.C121S

c.362G>C

1 paper

NM_001017365.3

p.C121S

c.361T>A

1 paper

NM_001017365.3

p.T126A

c.376A>G

1 paper

NM_001017365.3

p.R118W

c.352C>T

1 paper

NM_001017365.3

p.I112I

c.336C>T

1 paper

NM_001017365.3

p.Y111ins1

c.331_332insACA

1 paper

NM_001017365.3

p.H110ins1

c.328_329insACA

1 paper

NM_001017365.3

p.D109N

c.325G>A

1 paper

NM_001017365.3

p.R137Splc

c.409+3A>G

1 paper

NM_001017365.3

p.S100R

c.300T>A

1 paper

NM_001017365.3

p.P84T

c.250C>A