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

2 papers

NM_000939.4

p.S32R

c.96C>A

Surrounding Variants

2 papers

NM_000939.4

p.S32R

c.96C>G

1 paper

NM_000939.4

p.S32N

c.95G>A

1 paper

NM_000939.4

p.Q33E

c.97C>G

1 paper

NM_000939.4

p.Q33K

c.97C>A

1 paper

NM_000939.4

p.S32C

c.94A>T

2 papers

NM_000939.4

p.Q33R

c.98A>G

1 paper

NM_000939.4

p.S32G

c.94A>G

2 papers

NM_000939.4

p.S32R

c.94A>C

1 paper

NM_000939.4

p.Q33P

c.98A>C

1 paper

NM_000939.4

p.S32_Q33ins0

c.94_99dup6

1 paper

NM_000939.4

p.C34insFs

c.100_101insA

2 papers

NM_000939.4

p.C34R

c.100T>C