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.I43I

c.129T>A

Surrounding Variants

1 paper

NM_001017365.3

p.L44L

c.132G>C

1 paper

NM_001017365.3

p.T46I

c.137C>T

1 paper

NM_001017365.3

p.A36T

c.106G>A

1 paper

NM_001017365.3

p.L61fs

c.181_182fs

1 paper

NM_001017365.3

p.E25K

c.73G>A

1 paper

NM_001017365.3

p.C63Y

c.188G>A

1 paper

NM_001017365.3

p.K67T

c.200A>C

1 paper

NM_001017365.3

p.N71K

c.213C>A

1 paper

NM_001017365.3

p.N71K

c.213C>G

1 paper

NM_001017365.3

p.L78M

c.232T>A

1 paper

NM_001017365.3

p.L78Splc

c.232+3A>G

1 paper

NM_001017365.3

p.A20Splc

c.58+2T>G