Varaico: Literature-Extracted Genetic Variants

CFHR5

274 papers

RefSeq Summary

This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of compl...

Pfam Domains

Sushiaa 23–83UCSCSushi repeat (SCR repeat)

Sushiaa 87–140UCSCSushi repeat (SCR repeat)

Sushiaa 147–201UCSCSushi repeat (SCR repeat)

Sushiaa 208–262UCSCSushi repeat (SCR repeat)

Sushiaa 269–322UCSCSushi repeat (SCR repeat)

Sushiaa 389–442UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H related 5

HGNC Previous Symbol

CFHL5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030787.4

p.N216I

c.647A>T

Surrounding Variants

2 papers

NM_030787.4

p.N216S

c.647A>G

1 paper

NM_030787.4

p.N216Fs

c.647delinsTTFs

1 paper

NM_030787.4

p.N216delins

c.646_647delinsTT

1 paper

NM_030787.4

p.V219_E221del3

c.655_662del9

1 paper

NM_030787.4

p.P212delFs

c.636delT

1 paper

NM_030787.4

p.K220K

c.660G>A

1 paper

NM_030787.4

p.I222T

c.665T>C

1 paper

NM_030787.4

p.R223S

c.669A>C

1 paper

NM_030787.4

p.R223S

c.669A>T

14 papers

NM_030787.4

p.C208R

c.622T>C

1 paper

NM_030787.4

p.E226fs

c.676_677fs

2 papers

NM_030787.4

p.R206*

c.616C>T