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.V162_E163del0

c.484_489del6

Surrounding Variants

1 paper

NM_005035.4

p.C174S

c.520T>A

1 paper

NM_005035.4

p.C174S

c.521G>C

1 paper

NM_005035.4

p.Q149*

c.445C>T

1 paper

NM_005035.4

p.L140F

c.420G>T

1 paper

NM_005035.4

p.E188G

c.563A>G

1 paper

NM_005035.4

p.E189G

c.566A>G

1 paper

NM_005035.4

p.L191P

c.572T>C

1 paper

NM_005035.4

p.R136C

c.406C>T

2 papers

NM_005035.4

p.R131Q

c.392G>A

1 paper

NM_005035.4

p.P199L

c.596C>T

1 paper

NM_005035.4

p.G120R

c.358G>C

1 paper

NM_005035.4

p.P210P

c.630G>A