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.A545T

c.1633G>A

Surrounding Variants

5 papers

NM_002979.5

p.A545_K546insA

c.1633_1637ins3

1 paper

NM_002979.5

p.S516_A517Splc

c.1548+2T>C