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

1–12 of 88 variants

5 papers

NM_002979.5

p.A182insFs

c.545_546insA

5 papers

NM_002979.5

p.A545_K546insA

c.1633_1637ins3

3 papers

NM_002979.5

p.E41*

c.121G>T

2 papers

NM_002979.5

p.C94_A95delFs

c.282_283delTG

2 papers

NM_002979.5

p.G97R

c.289G>C

2 papers

NM_002979.5

p.C225Splc

c.674+1G>C

2 papers

NM_002979.5

p.M275_V276Splc

c.825+1G>T

2 papers

NM_002979.5

p.M280I

c.840G>A

2 papers

NM_002979.5

p.M280I

c.840G>C

2 papers

NM_002979.5

p.M280I

c.840G>T

1 paper

NM_002979.5

p.S4Y

c.11C>A

1 paper

NM_002979.5

p.F15delFs

c.45delC