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

1–12 of 95 variants

5 papers

NM_024532.5

p.K425T

c.1274A>C

3 papers

NM_024532.5

p.S356N

c.1067G>A

3 papers

NM_024532.5

p.V609I

c.1825G>A

2 papers

NM_024532.5

p.P324T

c.970C>A

2 papers

NM_024532.5

p.Q361H

c.1083A>C

2 papers

NM_024532.5

p.Q361H

c.1083A>T

2 papers

NM_024532.5

p.W376*

c.1128G>A

2 papers

NM_024532.5

p.Y475fs

c.1423_1424fs

2 papers

NM_024532.5

p.F489insFs

c.1465_1466insC

2 papers

NM_024532.5

p.S490_N491insFs

c.1470_1471insA

2 papers

NM_024532.5

p.R628Q

c.1883G>A

1 paper

NM_024532.5

p.M1V

c.1A>G