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

Selected Variant

3 papers

NM_144668.6

p.K1038N

c.3114G>C

Surrounding Variants

3 papers

NM_144668.6

p.K1038N

c.3114G>T

1 paper

NM_144668.6

p.P1028L

c.3083C>T

1 paper

NM_144668.6

p.K1063_K1064insTG

c.3187_3191ins6

1 paper

NM_144668.6

p.E1069_D1070insAC

c.3205_3209ins6

1 paper

NM_144668.6

p.I1003fs

c.3007_3008fs

2 papers

NM_144668.6

p.G1079Splc

c.3236-34T>C

1 paper

NM_144668.6

p.T1083R

c.3248C>G

1 paper

NM_144668.6

p.M1087I

c.3261G>A

1 paper

NM_144668.6

p.M1087I

c.3261G>C

1 paper

NM_144668.6

p.M1087I

c.3261G>T

1 paper

NM_144668.6

p.F1095S

c.3284T>C

1 paper

NM_144668.6

p.P1099P

c.3297C>G