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

5 papers

NM_024532.5

p.K425T

c.1274A>C

Surrounding Variants

1 paper

NM_024532.5

p.D427N

c.1279G>A

1 paper

NM_024532.5

p.L420_W421del2

c.1258_1262del6

1 paper

NM_024532.5

p.S436I

c.1307G>T

1 paper

NM_024532.5

p.S412L

c.1235C>T

1 paper

NM_024532.5

p.K408Q

c.1222A>C

1 paper

NM_024532.5

p.F450delFs

c.1350delT

1 paper

NM_024532.5

p.F450fs

c.1348_1349fs

1 paper

NM_024532.5

p.N466S

c.1397A>G