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.R185M

c.554G>T

Surrounding Variants

2 papers

NM_012443.4

p.A195delFs

c.585delA

3 papers

NM_012443.4

p.K196fs

c.586_587fs

1 paper

NM_012443.4

p.V173G

c.518T>G

1 paper

NM_012443.4

p.V173delFs

c.519delA

1 paper

NM_012443.4

p.L201_A202insFs

c.603_604insG

1 paper

NM_012443.4

p.V206delFs

c.616delG

1 paper

NM_012443.4

p.Q235*

c.703C>T

1 paper

NM_012443.4

p.V236F

c.706G>T

1 paper

NM_012443.4

p.H239insFs

c.715dupC

1 paper

NM_012443.4

p.H239Y

c.715C>T

1 paper

NM_012443.4

p.F253S

c.758T>C

1 paper

NM_012443.4

p.K261K

c.783G>A