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

Selected Variant

1 paper

NM_016585.5

p.F164S

c.491T>C

Surrounding Variants

1 paper

NM_016585.5

p.M160R

c.479T>G

1 paper

NM_016585.5

p.R147C

c.439C>T

1 paper

NM_016585.5

p.R144Splc

c.431+8C>T

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

1 paper

NM_016585.5

p.R176W

c.526C>T

1 paper

NM_016585.5

p.R176Q

c.527G>A

1 paper

NM_016585.5

p.T184A

c.550A>G

2 papers

NM_016585.5

p.R193C

c.577C>T

1 paper

NM_016585.5

p.E82*

c.244G>T

1 paper

NM_016585.5

p.D79G

c.236A>G