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.K23_F24Splc

c.70-2A>G

Surrounding Variants

1 paper

NM_002979.5

p.F24S

c.71T>C

1 paper

NM_002979.5

p.Y35Y

c.105C>T

3 papers

NM_002979.5

p.E41*

c.121G>T

1 paper

NM_002979.5

p.A48delFs

c.142_143delGC

1 paper

NM_002979.5

p.D58Y

c.172G>T

1 paper

NM_002979.5

p.G67Splc

c.200-45C>G

1 paper

NM_002979.5

p.D68_G72delFs

c.204_214del11

1 paper

NM_002979.5

p.L80M

c.238T>A

1 paper

NM_002979.5

p.C94_A95insFs

c.282_283dupTG

2 papers

NM_002979.5

p.C94_A95delFs

c.282_283delTG

1 paper

NM_002979.5

p.A95fs

c.283_284fs

1 paper

NM_002979.5

p.A95fs

c.283_284fs