Varaico: Literature-Extracted Genetic Variants

POLRMT

138 papers

RefSeq Summary

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of t...

Pfam Domains

RPOL_Naa 403–704UCSCDNA-directed RNA polymerase N-terminal

RNA_polaa 831–1210UCSCDNA-dependent RNA polymerase

Gene Aliases

HGNC Name

RNA polymerase mitochondrial

HGNC Alias Symbols

h-mtRPOL; APOLMT; MTRNAP; MTRPOL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005035.4

p.Q49*

c.145C>T

Surrounding Variants

1 paper

NM_005035.4

p.Q47H

c.141G>T

1 paper

NM_005035.4

p.Q47H

c.141G>C

1 paper

NM_005035.4

p.R54K

c.161G>A

2 papers

NM_005035.4

p.P38S

c.112C>T

1 paper

NM_005035.4

p.G33C

c.97G>T

1 paper

NM_005035.4

p.G30W

c.88G>T

1 paper

NM_005035.4

p.G30W

c.88G>T

1 paper

NM_005035.4

p.G27V

c.80G>T

1 paper

NM_005035.4

p.A11A

c.33G>C

1 paper

NM_005035.4

p.W6insFs

c.17_18ins14

1 paper

NM_005035.4

p.W6insFs

c.17_18ins20

1 paper

NM_005035.4

p.Q72H

c.216G>T