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

1 paper

NM_000939.4

p.G26V

c.77G>T

Surrounding Variants

1 paper

NM_000939.4

p.G26insFs

c.76_77insTA

1 paper

NM_000939.4

p.G26R

c.76G>C

1 paper

NM_000939.4

p.G26S

c.76G>A

1 paper

NM_000939.4

p.G26fs

c.76_77fs

1 paper

NM_000939.4

p.R25insFs

c.74_75insG

1 paper

NM_000939.4

p.W27insFs

c.79_80insA

1 paper

NM_000939.4

p.W27G

c.79T>G

2 papers

NM_000939.4

p.R25L

c.74G>T

1 paper

NM_000939.4

p.W27L

c.80G>T

1 paper

NM_000939.4

p.W27S

c.80G>C

1 paper

NM_000939.4

p.R25P

c.74G>C

1 paper

NM_000939.4

p.W27*

c.80G>A