Varaico: Literature-Extracted Genetic Variants

SPAG9

150 papers

RefSeq Summary

This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Ju...

Pfam Domains

RH1aa 23–87UCSCRILP homology 1 domain

JIP_LZIIaa 404–474UCSCJNK-interacting protein leucine zipper II

WD40_2aa 946–1183UCSCWD40 repeated domain

Gene Aliases

HGNC Name

sperm associated antigen 9

HGNC Alias Symbols

HSS; SYD1; KIAA0516; MGC14967; MGC74461; MGC117291; JLP; PHET; HLC4; FLJ13450; FLJ14006; FLJ26141; FLJ34602; CT89; JIP4; JIP-4; PIG6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001130528.3

p.E893K

c.2677G>A

Surrounding Variants

2 papers

NM_001130528.3

p.E893*

c.2677G>T

1 paper

NM_001130528.3

p.A899V

c.2696C>T

1 paper

NM_001130528.3

p.P922L

c.2765C>T

1 paper

NM_001130528.3

p.T861I

c.2582C>T

1 paper

NM_001130528.3

p.G800Splc

c.2399-1388A>G

1 paper

NM_001130528.3

p.E960K

c.2878G>A

1 paper

NM_001130528.3

p.I795V

c.2383A>G

1 paper

NM_001130528.3

p.S790F

c.2369C>T

1 paper

NM_001130528.3

p.D783G

c.2348A>G

1 paper

NM_001130528.3

p.G779delins

c.2335_2336delinsTT

1 paper

NM_001130528.3

p.L771_I773ins1

c.2311_2319dup9

1 paper

NM_001130528.3

p.T768_L771ins1

c.2303_2311dup9