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.M1L

c.1A>C

Surrounding Variants

1 paper

NM_012443.4

p.M1L

c.1A>T

1 paper

NM_012443.4

p.M1delFs

c.2delT

1 paper

NM_012443.4

p.M1insFs

c.3dupG

1 paper

NM_012443.4

p.S2delFs

c.5delG

1 paper

NM_012443.4

p.E11Q

c.31G>C

2 papers

NM_012443.4

p.A16_R17delFs

c.48_49delCA

1 paper

NM_012443.4

p.L37L

c.109C>T

1 paper

NM_012443.4

p.Q38K

c.112C>A