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

8 papers

NM_003114.5

p.M777T

c.2330T>C

Surrounding Variants

1 paper

NM_003114.5

p.M777I

c.2331G>A

1 paper

NM_003114.5

p.E766D

c.2298G>C

1 paper

NM_003114.5

p.E766D

c.2298G>T

1 paper

NM_003114.5

p.E767delFs

c.2299delG

1 paper

NM_003114.5

p.S789fs

c.2365_2366fs

1 paper

NM_003114.5

p.N762_E763ins4

c.2284_2288ins12

1 paper

NM_003114.5

p.K822del1

c.2464_2465delAAA

5 papers

NM_003114.5

p.D848delFs

c.2542delG

1 paper

NM_003114.5

p.D848fs

c.2542_2543fs

1 paper

NM_003114.5

p.F850L

c.2548T>C

1 paper

NM_003114.5

p.F850L

c.2550C>A

1 paper

NM_003114.5

p.F850L

c.2550C>G