Varaico: Literature-Extracted Genetic Variants

CFHR2

101 papers

RefSeq Summary

This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mut...

Pfam Domains

Sushiaa 22–75UCSCSushi repeat (SCR repeat)

Sushiaa 23–83UCSCSushi repeat (SCR repeat)

Sushiaa 84–138UCSCSushi repeat (SCR repeat)

Sushiaa 142–202UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H related 2

HGNC Previous Symbols

HFL3; CFHL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005666.4

p.F59L

c.177T>A

Surrounding Variants

4 papers

NM_005666.4

p.F59L

c.177T>G

4 papers

NM_005666.4

p.F59L

c.175T>C

1 paper

NM_005666.4

p.Y53*

c.159C>A

1 paper

NM_005666.4

p.W67insFs

c.199dupT

1 paper

NM_005666.4

p.Y53*

c.159C>G

1 paper

NM_005666.4

p.R69S

c.205C>A

1 paper

NM_005666.4

p.R69C

c.205C>T

1 paper

NM_005666.4

p.E49D

c.147A>C

1 paper

NM_005666.4

p.E49D

c.147A>T

7 papers

NM_005666.4

p.T71M

c.212C>T

10 papers

NM_005666.4

p.C72Y

c.215G>A

1 paper

NM_005666.4

p.P46S

c.136C>T