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

4 papers

NM_003114.5

p.K301fs

c.901_902fs

Surrounding Variants

1 paper

NM_003114.5

p.K301*

c.901A>T

1 paper

NM_003114.5

p.L299L

c.897G>A

4 papers

NM_003114.5

p.K301_V302delFs

c.902_906del5

3 papers

NM_003114.5

p.L299_K301delFs

c.897_901del5

1 paper

NM_003114.5

p.T296R

c.887C>G

1 paper

NM_003114.5

p.R293W

c.877C>T

1 paper

NM_003114.5

p.N309I

c.926A>T

1 paper

NM_003114.5

p.T285A

c.853A>G

1 paper

NM_003114.5

p.K313_K314Splc

c.939+13T>C

1 paper

NM_003114.5

p.R282C

c.844C>T

2 papers

NM_003114.5

p.V319V

c.957T>A

2 papers

NM_003114.5

p.E331K

c.991G>A