Varaico: Literature-Extracted Genetic Variants

SPAG6

58 papers

RefSeq Summary

The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic inferti...

Pfam Domains

Armaa 30–70UCSCArmadillo/beta-catenin-like repeat

Armaa 114–154UCSCArmadillo/beta-catenin-like repeat

Armaa 156–196UCSCArmadillo/beta-catenin-like repeat

Armaa 198–238UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

sperm associated antigen 6

HGNC Alias Symbols

Repro-SA-1; PF16; CT141; FAP194; CFAP194

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012443.4

p.V54A

c.161T>C

Surrounding Variants

1 paper

NM_012443.4

p.V53L

c.157G>C

2 papers

NM_012443.4

p.D52insFs

c.155_156ins8

1 paper

NM_012443.4

p.L50F

c.148C>T

2 papers

NM_012443.4

p.T48_L49del1

c.143_145delCTC

2 papers

NM_012443.4

p.T48_L49del2

c.142_146del6

1 paper

NM_012443.4

p.A61G

c.182C>G

1 paper

NM_012443.4

p.A61A

c.183T>G

1 paper

NM_012443.4

p.L45W

c.134T>G

1 paper

NM_012443.4

p.V42L

c.124G>C

1 paper

NM_012443.4

p.Q87R

c.260A>G

1 paper

NM_012443.4

p.L88F

c.262C>T

1 paper

NM_012443.4

p.R97C

c.289C>T