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.R305Splc

c.913+2T>C

Surrounding Variants

1 paper

NM_016585.5

p.H302L

c.905A>T

2 papers

NM_016585.5

p.H297Y

c.889C>T

1 paper

NM_016585.5

p.P286L

c.857C>T

1 paper

NM_016585.5

p.S250T

c.748T>A

1 paper

NM_016585.5

p.M249V

c.745A>G

1 paper

NM_016585.5

p.A236A

c.708C>T

1 paper

NM_016585.5

p.A236V

c.707C>T

1 paper

NM_016585.5

p.R231H

c.692G>A

1 paper

NM_016585.5

p.Y226N

c.676T>A

1 paper

NM_016585.5

p.I219V

c.655A>G

1 paper

NM_016585.5

p.T213M

c.638C>T

1 paper

NM_016585.5

p.S310L

c.929C>T