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

4 papers

NM_001017974.2

p.K443E

c.1327A>G

Surrounding Variants

4 papers

NM_001017974.2

p.K443*

c.1327A>T

1 paper

NM_001017974.2

p.R436Q

c.1307G>A

2 papers

NM_001017974.2

p.T451delFs

c.1352_1353delCG

2 papers

NM_001017974.2

p.Y455_M456Splc

c.1365+1G>C

1 paper

NM_001017974.2

p.Y455_M456Splc

c.1365+1G>A

2 papers

NM_004199.3

p.R439Q

c.1316G>A

1 paper

NM_001017974.2

p.R435_R436Splc

c.1305+16C>T

1 paper

NM_001017974.2

p.S434C

c.1301C>G

1 paper

NM_001017974.2

p.D432N

c.1294G>A

1 paper

NM_001017974.2

p.H430Y

c.1288C>T

2 papers

NM_001017974.2

p.Y421C

c.1262A>G

3 papers

NM_001017974.2

p.A461G

c.1382C>G