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.V49I

c.145G>A

Surrounding Variants

3 papers

NM_001177306.2

p.V49L

c.145G>C

3 papers

NM_001177306.2

p.V49L

c.145G>T

1 paper

NM_001177306.2

p.P48R

c.143C>G

1 paper

NM_001177306.2

p.V50L

c.148G>C

1 paper

NM_001177306.2

p.P51P

c.153T>C

1 paper

NM_001177306.2

p.T45_T46Fs

c.134_136delinsCCFs

1 paper

NM_001177306.2

p.D53N

c.157G>A

1 paper

NM_001177306.2

p.D53V

c.158A>T

1 paper

NM_001177306.2

p.G44S

c.130G>A

1 paper

NM_001177306.2

p.G44_T45insA

c.130_134ins3

1 paper

NM_001177306.2

p.E41Q

c.121G>C

1 paper

NM_001177306.2

p.N40S

c.119A>G