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

17 papers

NM_003114.5

p.Q672*

c.2014C>T

Surrounding Variants

1 paper

NM_003114.5

p.K669Q

c.2005A>C

1 paper

NM_003114.5

p.E675delFs

c.2025delA

2 papers

NM_003114.5

p.L665fs

c.1993_1994fs

2 papers

NM_003114.5

p.L665_C666delFs

c.1993_1996del4

1 paper

NM_003114.5

p.Q682fs

c.2044_2045fs

1 paper

NM_003114.5

p.Q682delFs

c.2046delG

3 papers

NM_003114.5

p.R697*

c.2089C>T

1 paper

NM_003114.5

p.N635fs

c.1903_1904fs

1 paper

NM_003114.5

p.E620fs

c.1858_1859fs

1 paper

NM_003114.5

p.E750Q

c.2248G>C

1 paper

NM_003114.5

p.E760K

c.2278G>A

1 paper

NM_003114.5

p.N762_E763ins4

c.2284_2288ins12