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.P379delFs

c.1137delG

Surrounding Variants

1 paper

NM_003114.5

p.A374fs

c.1120_1121fs

1 paper

NM_003114.5

p.A373delFs

c.1119delC

2 papers

NM_003114.5

p.A371_G383delFs

c.1113_1149del37

1 paper

NM_003114.5

p.A368V

c.1103C>T

1 paper

NM_003114.5

p.G391D

c.1172G>A

1 paper

NM_003114.5

p.G391G

c.1173C>G

2 papers

NM_003114.5

p.K366fs

c.1096_1097fs

1 paper

NM_003114.5

p.E394K

c.1180G>A

2 papers

NM_003114.5

p.K366Splc

c.1097-11C>G

1 paper

NM_003114.5

p.A422_A426delFs

c.1264_1276del13

3 papers

NM_003114.5

p.A424del1

c.1270_1272delGCG

1 paper

NM_003114.5

p.A428_A432delFs

c.1282_1294del13