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.N412Y

c.1234A>T

Surrounding Variants

1 paper

NM_001130528.3

p.L413P

c.1238T>C

1 paper

NM_001130528.3

p.T418A

c.1252A>G

1 paper

NM_001130528.3

p.G405Splc

c.1214-12T>G

1 paper

NM_001130528.3

p.N425S

c.1274A>G

1 paper

NM_001130528.3

p.L441M

c.1321C>A

1 paper

NM_001130528.3

p.L441P

c.1322T>C

1 paper

NM_001130528.3

p.L448R

c.1343T>G

1 paper

NM_001130528.3

p.R467K

c.1400G>A

1 paper

NM_001130528.3

p.E481K

c.1441G>A

1 paper

NM_001130528.3

p.Q485H

c.1455A>T

1 paper

NM_001130528.3

p.Q485H

c.1455A>C

1 paper

NM_001130528.3

p.R502Q

c.1505G>A