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.E208A

c.623A>C

Surrounding Variants

1 paper

NM_002979.5

p.E203E

c.609A>G

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

1 paper

NM_002979.5

p.F241delFs

c.723delT

1 paper

NM_002979.5

p.F241fs

c.721_722fs

1 paper

NM_002979.5

p.Q243*

c.727C>T

1 paper

NM_002979.5

p.A251V

c.752C>T

1 paper

NM_002979.5

p.F267S

c.800T>C