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.S7_G10delFs

c.19_28del10

Surrounding Variants

2 papers

NM_000939.4

p.G10V

c.29G>T

1 paper

NM_000939.4

p.G10A

c.29G>C

1 paper

NM_000939.4

p.G10E

c.29G>A

1 paper

NM_000939.4

p.G10R

c.28G>C

2 papers

NM_000939.4

p.G10R

c.28G>A

1 paper

NM_000939.4

p.A11S

c.31G>T

4 papers

NM_000939.4

p.A11T

c.31G>A

2 papers

NM_000939.4

p.S9L

c.26C>T

1 paper

NM_000939.4

p.A11V

c.32C>T

1 paper

NM_000939.4

p.A11G

c.32C>G

2 papers

NM_000939.4

p.S9insFs

c.26_27ins7

1 paper

NM_000939.4

p.A11D

c.32C>A