Varaico: Literature-Extracted Genetic Variants

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region

ACTH_domainaa 74–91UCSCCorticotropin ACTH domain

ACTH_domainaa 136–155UCSCCorticotropin ACTH domain

ACTH_domainaa 218–236UCSCCorticotropin ACTH domain

Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000939.4

p.L205R

c.614T>G

Surrounding Variants

2 papers

NM_000939.4

p.L205P

c.614T>C

2 papers

NM_000939.4

p.L205Q

c.614T>A

1 paper

NM_000939.4

p.L205V

c.613C>G

1 paper

NM_000939.4

p.L205M

c.613C>A

1 paper

NM_000939.4

p.A201_D204del0

c.601_612del12

10 papers

NM_000939.4

p.E206*

c.616G>T

1 paper

NM_000939.4

p.E206Q

c.616G>C

1 paper

NM_000939.4

p.E206K

c.616G>A

1 paper

NM_000939.4

p.Q202_E206delins

c.605_616delinsGGGCCCAGGCCGACGTGT

1 paper

NM_000939.4

p.D204D

c.612C>T

1 paper

NM_000939.4

p.D204E

c.612C>G

1 paper

NM_000939.4

p.D204E

c.612C>A