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.L699V

c.2095C>G

Surrounding Variants

1 paper

NM_005035.4

p.Q722*

c.2164C>T

1 paper

NM_005035.4

p.T673T

c.2019G>A

1 paper

NM_005035.4

p.R672C

c.2014C>T

1 paper

NM_005035.4

p.L729fs

c.2185_2186fs

1 paper

NM_005035.4

p.Q740fs

c.2218_2219fs

1 paper

NM_005035.4

p.A738_A744del0

c.2214_2231del18

1 paper

NM_005035.4

p.P742_H748del0

c.2225_2242del18

1 paper

NM_005035.4

p.P647L

c.1940C>T

1 paper

NM_005035.4

p.V646I

c.1936G>A

1 paper

NM_005035.4

p.F641L

c.1923C>G

1 paper

NM_005035.4

p.F641L

c.1923C>A

1 paper

NM_005035.4

p.F641L

c.1921T>C