Varaico: Literature-Extracted Genetic Variants

CFAP251

126 papers

RefSeq Summary

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family ...

Pfam Domains

WD40aa 289–329UCSCWD domain, G-beta repeat

WD40aa 596–634UCSCWD domain, G-beta repeat

WD40aa 881–920UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 251

HGNC Previous Symbol

WDR66

Papers

RefSeq ID

Protein change

DNA change

1–12 of 209 variants

12 papers

NM_144668.6

p.G66ins5

c.196_197ins15

9 papers

NM_144668.6

p.G66E

c.197G>A

8 papers

NM_144668.6

p.T186_D187ins15

c.556_560ins45

5 papers

NM_144668.6

p.E111*

c.331G>T

4 papers

NM_144668.6

p.Q196_E197ins15

c.586_590ins45

4 papers

NM_144668.6

p.L650F

c.1948C>T

4 papers

NM_144668.6

p.V870L

c.2608G>C

4 papers

NM_144668.6

p.V870L

c.2608G>T

3 papers

NM_144668.6

p.K1038N

c.3114G>C

3 papers

NM_144668.6

p.K1038N

c.3114G>T

2 papers

NM_144668.6

p.R9*

c.25C>T

2 papers

NM_144668.6

p.D42fs

c.124_125fs