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.H244Y

c.730C>T

Surrounding Variants

1 paper

NM_005035.4

p.L241H

c.722T>A

2 papers

NM_005035.4

p.H250D

c.748C>G

2 papers

NM_005035.4

p.D237N

c.709G>A

1 paper

NM_005035.4

p.R253Q

c.758G>A

1 paper

NM_005035.4

p.L234delFs

c.700delG

1 paper

NM_005035.4

p.P210P

c.630G>A

1 paper

NM_005035.4

p.Q274_G275Splc

c.822+15G>C

1 paper

NM_005035.4

p.P199L

c.596C>T

1 paper

NM_005035.4

p.L191P

c.572T>C

1 paper

NM_005035.4

p.E189G

c.566A>G

1 paper

NM_005035.4

p.E188G

c.563A>G

1 paper

NM_005035.4

p.C174S

c.521G>C