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

1 paper

NM_001130528.3

p.L1266F

c.3798G>T

Surrounding Variants

1 paper

NM_001130528.3

p.L1266F

c.3798G>C

1 paper

NM_001130528.3

p.P1239T

c.3715C>A

1 paper

NM_001130528.3

p.P1208H

c.3623C>A

1 paper

NM_001130528.3

p.S1188I

c.3563G>T

1 paper

NM_001130528.3

p.N1176S

c.3527A>G

1 paper

NM_001130528.3

p.I1170N

c.3509T>A

1 paper

NM_001130528.3

p.I1168M

c.3504C>G

1 paper

NM_001130528.3

p.G1099R

c.3295G>A