Varaico: Literature-Extracted Genetic Variants

SCP2

83 papers

RefSeq Summary

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript in...

Pfam Domains

Thiolase_Naa 14–240UCSCThiolase, N-terminal domain

Thiolase_C_1aa 265–363UCSCThiolase C-terminal domain-like

Thiolase_C_1aa 265–403UCSCThiolase C-terminal domain-like

SCP2aa 437–540UCSCSCP-2 sterol transfer family

Gene Aliases

HGNC Name

sterol carrier protein 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002979.5

p.Y289C

c.866A>G

Surrounding Variants

1 paper

NM_002979.5

p.E290_L294delFs

c.869_881del13

1 paper

NM_002979.5

p.G293S

c.877G>A

1 paper

NM_002979.5

p.T295K

c.884C>A

1 paper

NM_002979.5

p.P296S

c.886C>T

1 paper

NM_002979.5

p.K282_E283del2

c.844_848del6

2 papers

NM_002979.5

p.M280I

c.840G>A

2 papers

NM_002979.5

p.M280I

c.840G>C

1 paper

NM_002979.5

p.D298H

c.892G>C

2 papers

NM_002979.5

p.M280I

c.840G>T

1 paper

NM_002979.5

p.D306N

c.916G>A

1 paper

NM_002979.5

p.E317K

c.949G>A

1 paper

NM_002979.5

p.A318delFs

c.953delC