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.T129M

c.386C>T

Surrounding Variants

1 paper

NM_012443.4

p.A126P

c.376G>C

1 paper

NM_012443.4

p.A126_L127delFs

c.378_379delAC

1 paper

NM_012443.4

p.D123E

c.369T>A

2 papers

NM_012443.4

p.D123N

c.367G>A

1 paper

NM_012443.4

p.V141D

c.422T>A

2 papers

NM_012443.4

p.E143_A145del3

c.427_434del9

1 paper

NM_012443.4

p.A144_A145del0

c.430_435del6

1 paper

NM_012443.4

p.A146A

c.438C>G

1 paper

NM_012443.4

p.K112delFs

c.335_336delAA

1 paper

NM_012443.4

p.W147*

c.440G>A

1 paper

NM_012443.4

p.G111C

c.331G>T

1 paper

NM_012443.4

p.V106L

c.316G>C