Varaico: Literature-Extracted Genetic Variants

SPMAP2

31 papers

RefSeq Summary

This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-compl...

Pfam Domains

THEGaa 188–216UCSCTesticular haploid expressed repeat

THEGaa 217–275UCSCTesticular haploid expressed repeat

THEGaa 284–343UCSCTesticular haploid expressed repeat

Gene Aliases

HGNC Name

sperm microtubule associated protein 2

HGNC Previous Symbol

THEG

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

2 papers

NM_016585.5

p.L131R

c.392T>G

2 papers

NM_016585.5

p.W168*

c.503G>A

2 papers

NM_016585.5

p.W168*

c.504G>A

2 papers

NM_016585.5

p.R193C

c.577C>T

2 papers

NM_016585.5

p.H297Y

c.889C>T

1 paper

NM_016585.5

p.M1K

c.2T>A

1 paper

NM_016585.5

p.A18V

c.53C>T

1 paper

NM_016585.5

p.R23fs

c.67_68fs

1 paper

NM_016585.5

p.G27fs

c.79_80fs

1 paper

NM_016585.5

p.S39N

c.116G>A

1 paper

NM_016585.5

p.R47C

c.139C>T

1 paper

NM_016585.5

p.R47S

c.139C>A