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.T394insFs

c.1180_1181ins8

Surrounding Variants

1 paper

NM_024532.5

p.T394fs

c.1180_1181fs

1 paper

NM_024532.5

p.D399N

c.1195G>A

1 paper

NM_024532.5

p.F402L

c.1204T>C

1 paper

NM_024532.5

p.F402L

c.1206C>A

1 paper

NM_024532.5

p.F402L

c.1206C>G

2 papers

NM_024532.5

p.W376*

c.1128G>A

1 paper

NM_024532.5

p.R374*

c.1120C>T

1 paper

NM_024532.5

p.D373E

c.1119C>A

1 paper

NM_024532.5

p.D373E

c.1119C>G

2 papers

NM_024532.5

p.Q361H

c.1083A>C

2 papers

NM_024532.5

p.Q361H

c.1083A>T

1 paper

NM_024532.5

p.S359C

c.1076C>G