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

1–12 of 121 variants

4 papers

NM_001130528.3

p.Q67L

c.200A>T

3 papers

NM_001130528.3

p.R549fs

c.1645_1646fs

2 papers

NM_001130528.3

p.R549delFs

c.1645delT

2 papers

NM_001130528.3

p.E893*

c.2677G>T

2 papers

NM_001130528.3

p.E893K

c.2677G>A

1 paper

NM_001130528.3

p.M1K

c.2T>A

1 paper

NM_001130528.3

p.G6insFs

c.16_17insG

1 paper

NM_001130528.3

p.Y9F

c.26A>T

1 paper

NM_001130528.3

p.E11_E12insFs

c.33_34insC

1 paper

NM_001130528.3

p.E22G

c.65A>G

1 paper

NM_001130528.3

p.S25T

c.73T>A

1 paper

NM_001130528.3

p.Y32C

c.95A>G