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

1 paper

NM_024532.5

p.P488_F489insFs

c.1464_1465insC

Surrounding Variants

2 papers

NM_024532.5

p.F489insFs

c.1465_1466insC

1 paper

NM_024532.5

p.F489fs

c.1465_1466fs

1 paper

NM_024532.5

p.F487S

c.1460T>C

1 paper

NM_024532.5

p.S490insFs

c.1469_1470insA

2 papers

NM_024532.5

p.S490_N491insFs

c.1470_1471insA

1 paper

NM_024532.5

p.A498V

c.1493C>T

2 papers

NM_024532.5

p.Y475fs

c.1423_1424fs

1 paper

NM_024532.5

p.R471I

c.1412G>T

1 paper

NM_024532.5

p.T509_G510Splc

c.1527+36A>G