Varaico: Literature-Extracted Genetic Variants

CFH

1,309 papers

RefSeq Summary

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream...

Pfam Domains

Sushiaa 21–80UCSCSushi repeat (SCR repeat)

Sushiaa 85–141UCSCSushi repeat (SCR repeat)

Sushiaa 146–205UCSCSushi repeat (SCR repeat)

Sushiaa 210–262UCSCSushi repeat (SCR repeat)

Sushiaa 267–320UCSCSushi repeat (SCR repeat)

Sushiaa 325–385UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H

HGNC Previous Symbols

HF; HF1; HF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000186.4

p.W71*

c.212G>A

Surrounding Variants

2 papers

NM_000186.4

p.W71*

c.213G>A

5 papers

NM_000186.4

p.W71R

c.211T>A

6 papers

NM_000186.4

p.W71R

c.211T>C

1 paper

NM_000186.4

p.E70D

c.210A>T

1 paper

NM_000186.4

p.E70A

c.209A>C

1 paper

NM_000186.4

p.E70insFs

c.208_209insT

2 papers

NM_000186.4

p.A73G

c.218C>G

1 paper

NM_000186.4

p.A73V

c.218C>T

6 papers

NM_000186.4

p.G69E

c.206G>A

1 paper

NM_000186.4

p.G69R

c.205G>A

1 paper

NM_000186.4

p.G69R

c.205G>C

3 papers

NM_000186.4

p.G69*

c.205G>T