Varaico: Literature-Extracted Genetic Variants

CFHR4

122 papers

RefSeq Summary

This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The C...

Pfam Domains

Sushiaa 24–85UCSCSushi repeat (SCR repeat)

Sushiaa 86–145UCSCSushi repeat (SCR repeat)

Sushiaa 149–204UCSCSushi repeat (SCR repeat)

Sushiaa 211–265UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H related 4

HGNC Previous Symbol

CFHL4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 109 variants

8 papers

NM_001201550.3

p.E125D

c.375G>C

8 papers

NM_001201550.3

p.E125D

c.375G>T

4 papers

NM_001201550.3

p.N210S

c.629A>G

3 papers

NM_001201550.3

p.Y35H

c.103T>C

3 papers

NM_001201550.3

p.S267Splc

c.799+3A>C

3 papers

NM_001201550.3

p.G553E

c.1658G>A

2 papers

NM_001201550.3

p.R41*

c.121A>T

2 papers

NM_001201550.3

p.W68*

c.203G>A

2 papers

NM_001201550.3

p.W68*

c.204G>A

2 papers

NM_001201550.3

p.A122A

c.366A>G

2 papers

NM_001201550.3

p.Q136K

c.406C>A

2 papers

NM_001201550.3

p.E175K

c.523G>A