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.W146C

c.438G>T

Surrounding Variants

1 paper

NM_000939.4

p.W146C

c.438G>C

1 paper

NM_000939.4

p.G147C

c.439G>T

1 paper

NM_000939.4

p.W146L

c.437G>T

1 paper

NM_000939.4

p.G147R

c.439G>C

1 paper

NM_000939.4

p.W146S

c.437G>C

1 paper

NM_000939.4

p.G147S

c.439G>A

1 paper

NM_000939.4

p.W146G

c.436T>G

1 paper

NM_000939.4

p.W146R

c.436T>C

1 paper

NM_000939.4

p.W146R

c.436T>A

1 paper

NM_000939.4

p.G147V

c.440G>T

1 paper

NM_000939.4

p.G147A

c.440G>C

2 papers

NM_000939.4

p.G147D

c.440G>A