Varaico: Literature-Extracted Genetic Variants

SPAG1

117 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

TPR_1aa 657–690UCSCTetratricopeptide repeat

RPAP3_Caa 802–894UCSCPotential Monad-binding region of RPAP3

Gene Aliases

HGNC Name

sperm associated antigen 1

HGNC Alias Symbols

SP75; FLJ32920; HSD-3.8; TPIS; CT140; CILD28; DNAAF13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003114.5

p.K353_S354ins1

c.1059_1060insGAC

Surrounding Variants

1 paper

NM_003114.5

p.S354ins1

c.1060_1061insGAC

1 paper

NM_003114.5

p.K353E

c.1057A>G

1 paper

NM_003114.5

p.G355R

c.1063G>A

1 paper

NM_003114.5

p.G355R

c.1063G>C

1 paper

NM_003114.5

p.E351K

c.1051G>A

1 paper

NM_003114.5

p.E359K

c.1075G>A

1 paper

NM_003114.5

p.Q342*

c.1024C>T

2 papers

NM_003114.5

p.E331K

c.991G>A

1 paper

NM_003114.5

p.K366Splc

c.1096+35G>A

2 papers

NM_003114.5

p.V319V

c.957T>A

1 paper

NM_003114.5

p.K313_K314Splc

c.939+13T>C

1 paper

NM_003114.5

p.N309I

c.926A>T