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.Q731E

c.2191C>G

Surrounding Variants

1 paper

NM_001130528.3

p.G723_S724delFs

c.2168_2172del5

1 paper

NM_001130528.3

p.L737fs

c.2209_2210fs

1 paper

NM_001130528.3

p.L737_D738delFs

c.2210_2214del5

1 paper

NM_001130528.3

p.G698R

c.2092G>C

1 paper

NM_001130528.3

p.G698R

c.2092G>A

1 paper

NM_001130528.3

p.N694S

c.2081A>G

1 paper

NM_001130528.3

p.K746_L748del0

c.2236_2244del9

1 paper

NM_001130528.3

p.Q745_N750delins

c.2235_2248delinsAATTC

1 paper

NM_001130528.3

p.Q744_N750delins

c.2232_2248delinsAAAATTCC

1 paper

NM_001130528.3

p.Q745_N750del0

c.2235_2249del15

1 paper

NM_001130528.3

p.K746_Q751delins

c.2237_2253delinsTTCCT

1 paper

NM_001130528.3

p.Q745_E752delins

c.2235_2254delinsAAAGCCAACAA