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.A509V

c.1526C>T

Surrounding Variants

1 paper

NM_001130528.3

p.R502Q

c.1505G>A

1 paper

NM_001130528.3

p.L525F

c.1573C>T

1 paper

NM_001130528.3

p.I535insFs

c.1603dupA

1 paper

NM_001130528.3

p.E546K

c.1636G>A

2 papers

NM_001130528.3

p.R549delFs

c.1645delT

3 papers

NM_001130528.3

p.R549fs

c.1645_1646fs

1 paper

NM_001130528.3

p.W553R

c.1657T>C

1 paper

NM_001130528.3

p.W553R

c.1657T>A

1 paper

NM_001130528.3

p.N579S

c.1736A>G

1 paper

NM_001130528.3

p.A580_P581delFs

c.1739_1743del5

1 paper

NM_001130528.3

p.L599_P600delins

c.1796_1799delinsG

1 paper

NM_001130528.3

p.Q485H

c.1455A>T