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.D619H

c.1855G>C

Surrounding Variants

1 paper

NM_003114.5

p.E600_S603del4

c.1798_1808del12

1 paper

NM_003114.5

p.P584S

c.1750C>T

1 paper

NM_003114.5

p.E578delFs

c.1733delA

1 paper

NM_003114.5

p.M569T

c.1706T>C

1 paper

NM_003114.5

p.R563Splc

c.1688+42T>C

1 paper

NM_003114.5

p.C552Y

c.1655G>A

1 paper

NM_003114.5

p.Y537F

c.1610A>T

1 paper

NM_003114.5

p.A528V

c.1583C>T

1 paper

NM_003114.5

p.R527Q

c.1580G>A

1 paper

NM_003114.5

p.E620fs

c.1858_1859fs

1 paper

NM_003114.5

p.N635fs

c.1903_1904fs

2 papers

NM_003114.5

p.L665_C666delFs

c.1993_1996del4