Varaico: Literature-Extracted Genetic Variants

SEPHS1

57 papers

RefSeq Summary

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated in...

Pfam Domains

AIRSaa 67–180UCSCAIR synthase related protein, N-terminal domain

AIRS_Caa 192–368UCSCAIR synthase related protein, C-terminal domain

Gene Aliases

HGNC Name

selenophosphate synthetase 1

HGNC Alias Symbols

SPS; SPS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012247.5

p.Q146H

c.438A>T

Surrounding Variants

1 paper

NM_012247.5

p.Q146H

c.438A>C

1 paper

NM_012247.5

p.D150A

c.449A>C

1 paper

NM_012247.5

p.V171F

c.511G>T

1 paper

NM_012247.5

p.T177N

c.530C>A

1 paper

NM_012247.5

p.T133N

c.398C>A

1 paper

NM_012247.5

p.N130K

c.390T>G

1 paper

NM_012247.5

p.N130K

c.390T>A

1 paper

NM_012247.5

p.T117M

c.350C>T

1 paper

NM_012247.5

p.N106_V107insG

c.316_320ins3

1 paper

NM_012247.5

p.G100R

c.298G>C

1 paper

NM_012247.5

p.H212D

c.634C>G

1 paper

NM_012247.5

p.D94fs

c.280_281fs