Varaico: Literature-Extracted Genetic Variants

CFHR1

186 papers

RefSeq Summary

This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically a...

Pfam Domains

Sushiaa 9–59UCSCSushi repeat (SCR repeat)

Sushiaa 23–83UCSCSushi repeat (SCR repeat)

Sushiaa 33–86UCSCSushi repeat (SCR repeat)

Sushiaa 93–147UCSCSushi repeat (SCR repeat)

Sushiaa 154–208UCSCSushi repeat (SCR repeat)

Sushiaa 212–273UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H related 1

HGNC Previous Symbols

HFL1; CFHL1; CFHR1P; HFL2; CFHL1P

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002113.3

p.D144V

c.431A>T

Surrounding Variants

1 paper

NM_002113.3

p.D144Splc

c.431-1G>C

1 paper

NM_002113.3

p.T145T

c.435T>G

1 paper

NM_002113.3

p.C147fs

c.439_440fs

1 paper

NM_002113.3

p.P150P

c.450G>T

1 paper

NM_002113.3

p.P151H

c.452C>A

1 paper

NM_002113.3

p.P151P

c.453C>A

9 papers

NM_002113.3

p.H157Y

c.469C>T

8 papers

NM_002113.3

p.L159V

c.475C>G

1 paper

NM_002113.3

p.L159Q

c.476T>A

2 papers

NM_002113.3

p.S160*

c.479C>A

2 papers

NM_002113.3

p.K165E

c.493A>G

7 papers

NM_002113.3

p.E175Q

c.523G>C