Varaico: Literature-Extracted Genetic Variants

SPAG16

80 papers

RefSeq Summary

Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with th...

Pfam Domains

WD40aa 342–378UCSCWD domain, G-beta repeat

WD40aa 384–422UCSCWD domain, G-beta repeat

WD40aa 426–464UCSCWD domain, G-beta repeat

WD40aa 468–506UCSCWD domain, G-beta repeat

WD40aa 510–548UCSCWD domain, G-beta repeat

WD40aa 593–631UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

sperm associated antigen 16

HGNC Alias Symbols

PF20; FLJ22724; DKFZp666P1710; WDR29

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024532.5

p.R628Q

c.1883G>A

Surrounding Variants

1 paper

NM_024532.5

p.S620F

c.1859C>T

1 paper

NM_024532.5

p.G615E

c.1844G>A

1 paper

NM_024532.5

p.G615V

c.1844G>T

3 papers

NM_024532.5

p.V609I

c.1825G>A

1 paper

NM_024532.5

p.T608M

c.1823C>T

1 paper

NM_024532.5

p.G601V

c.1802G>T

1 paper

NM_024532.5

p.H597Y

c.1789C>T

1 paper

NM_024532.5

p.V585A

c.1754T>C