Varaico: Literature-Extracted Genetic Variants

P4HA2

77 papers

RefSeq Summary

This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several differen...

Pfam Domains

P4Ha_Naa 26–157UCSCProlyl 4-Hydroxylase alpha-subunit, N-terminal region

2OG-FeII_Oxy_3aa 416–519UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 4-hydroxylase subunit alpha 2

HGNC Alias Symbols

C-P4Halpha(II); lncRNA-PE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001017974.2

p.G296E

c.887G>A

Surrounding Variants

1 paper

NM_001017974.2

p.G296W

c.886G>T

1 paper

NM_001017974.2

p.R295C

c.883C>T

9 papers

NM_001017974.2

p.E291K

c.871G>A

1 paper

NM_001017974.2

p.P285H

c.854C>A

1 paper

NM_001017974.2

p.Y283N

c.847T>A

1 paper

NM_001017974.2

p.A271T

c.811G>A

1 paper

NM_001017974.2

p.T266_E267delFs

c.797_801del5

1 paper

NM_001017974.2

p.T261fs

c.781_782fs

1 paper

NM_001017974.2

p.R258*

c.772A>T

1 paper

NM_001017974.2

p.E256D

c.768A>T

1 paper

NM_001017974.2

p.E256D

c.768A>C

1 paper

NM_001017974.2

p.E251K

c.751G>A