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

1–12 of 59 variants

5 papers

NM_001017365.3

p.C8G

c.22T>G

2 papers

NM_001017365.3

p.L122L

c.366A>G

2 papers

NM_001017365.3

p.R137Splc

c.410-12C>T

2 papers

NM_001017365.3

p.E217K

c.649G>A

2 papers

NM_001017365.3

p.T232A

c.694A>G

1 paper

NM_001017365.3

p.M1fs

c.1_2fs

1 paper

NM_001017365.3

p.F2insFs

c.4_5insT

1 paper

NM_001017365.3

p.F3Y

c.8T>A

1 paper

NM_001017365.3

p.W4C

c.12G>C

1 paper

NM_001017365.3

p.W4C

c.12G>T

1 paper

NM_001017365.3

p.C5del1

c.13_14delTGT

1 paper

NM_001017365.3

p.A6_C7insFs

c.18_19insTT