Varaico: Literature-Extracted Genetic Variants

SEPHS2

29 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-tran...

Pfam Domains

AIRSaa 118–230UCSCAIR synthase related protein, N-terminal domain

AIRS_Caa 243–418UCSCAIR synthase related protein, C-terminal domain

Gene Aliases

HGNC Name

selenophosphate synthetase 2

HGNC Alias Symbols

SPS2; SPS2b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012248.4

p.L143L

c.427T>C

Surrounding Variants

1 paper

NM_012248.4

p.G130fs

c.388_389fs

1 paper

NM_012248.4

p.N157S

c.470A>G

1 paper

NM_012248.4

p.H128Y

c.382C>T

1 paper

NM_012248.4

p.M183I

c.549G>T

1 paper

NM_012248.4

p.M183I

c.549G>C

1 paper

NM_012248.4

p.M183I

c.549G>A

1 paper

NM_012248.4

p.Q98L

c.293A>T

1 paper

NM_012248.4

p.A96T

c.286G>A

2 papers

NM_012248.4

p.D80V

c.239A>T

2 papers

NM_012248.4

p.G212S

c.634G>A

1 paper

NM_012248.4

p.I223delFs

c.668delA

1 paper

NM_012248.4

p.M238_P239insFs

c.714_715insA