Varaico: Literature-Extracted Genetic Variants

PAM

460 papers

RefSeq Summary

This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, ...

Pfam Domains

Cu2_monooxygenaa 1–99UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monooxygenaa 59–175UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monoox_Caa 195–342UCSCCopper type II ascorbate-dependent monooxygenase, C-terminal domain

NHLaa 471–498UCSCNHL repeat

NHLaa 523–552UCSCNHL repeat

NHLaa 576–604UCSCNHL repeat

Gene Aliases

HGNC Name

peptidylglycine alpha-amidating monooxygenase

HGNC Alias Symbols

PAL; PHM; PAM-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001177306.2

p.R339R

c.1017A>G

Surrounding Variants

2 papers

NM_001177306.2

p.D336G

c.1007A>G

1 paper

NM_001177306.2

p.E344Q

c.1030G>C

1 paper

NM_001177306.2

p.E344A

c.1031A>C

1 paper

NM_001177306.2

p.N332S

c.995A>G

1 paper

NM_001177306.2

p.Q331K

c.991C>A

1 paper

NM_001177306.2

p.T330P

c.988A>C

1 paper

NM_001177306.2

p.T328I

c.983C>T

2 papers

NM_001177306.2

p.V351M

c.1051G>A

1 paper

NM_001177306.2

p.K352K

c.1056G>A

1 paper

NM_001177306.2

p.S325C

c.974C>G

1 paper

NM_001177306.2

p.H322N

c.964C>A

6 papers

NM_001177306.2

p.T304S

c.910A>T