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.K233R

c.698A>G

Surrounding Variants

1 paper

NM_000939.4

p.K233M

c.698A>T

1 paper

NM_000939.4

p.K233T

c.698A>C

1 paper

NM_000939.4

p.K233N

c.699G>T

1 paper

NM_000939.4

p.K233N

c.699G>C

1 paper

NM_000939.4

p.K233E

c.697A>G

1 paper

NM_000939.4

p.K233Q

c.697A>C

2 papers

NM_000939.4

p.D234Y

c.700G>T

1 paper

NM_000939.4

p.D234H

c.700G>C

2 papers

NM_000939.4

p.D234N

c.700G>A

1 paper

NM_000939.4

p.P232fs

c.694_695fs

1 paper

NM_000939.4

p.P232L

c.695C>T

1 paper

NM_000939.4

p.P232R

c.695C>G