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.E179E

c.537A>G

Surrounding Variants

5 papers

NM_002979.5

p.A182insFs

c.545_546insA

1 paper

NM_002979.5

p.I184fs

c.550_551fs

1 paper

NM_002979.5

p.H191R

c.572A>G

1 paper

NM_002979.5

p.P196Splc

c.587+1G>A

1 paper

NM_002979.5

p.E203E

c.609A>G

1 paper

NM_002979.5

p.E208A

c.623A>C

2 papers

NM_002979.5

p.C225Splc

c.674+1G>C

1 paper

NM_002979.5

p.S228L

c.683C>T

1 paper

NM_001007098.3

p.D185G

c.554A>G

1 paper

NM_002979.5

p.A231_A233del0

c.691_699del9

1 paper

NM_002979.5

p.L236S

c.707T>C

1 paper

NM_002979.5

p.A240T

c.718G>A