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

1 paper

NM_003114.5

p.N511fs

c.1531_1532fs

Surrounding Variants

1 paper

NM_003114.5

p.N511delFs

c.1532delA

3 papers

NM_003114.5

p.I507fs

c.1519_1520fs

4 papers

NM_003114.5

p.I507insFs

c.1519dupA

1 paper

NM_003114.5

p.I488I

c.1464C>T

1 paper

NM_003114.5

p.L486L

c.1456C>T

2 papers

NM_003114.5

p.G479E

c.1436G>A

1 paper

NM_003114.5

p.G479Splc

c.1435+16C>T

1 paper

NM_003114.5

p.G479E

c.1436G>A

1 paper

NM_003114.5

p.I472V

c.1414A>G

1 paper

NM_003114.5

p.G466fs

c.1396_1397fs

1 paper

NM_003114.5

p.A465delFs

c.1395delC

1 paper

NM_003114.5

p.Q460*

c.1378C>T