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

3 papers

NM_005035.4

p.T880_G881Splc

c.2641-1G>C

Surrounding Variants

1 paper

NM_005035.4

p.P891S

c.2671C>T

1 paper

NM_005035.4

p.P891A

c.2671C>G

1 paper

NM_005035.4

p.P891L

c.2672C>T

1 paper

NM_005035.4

p.A902V

c.2705C>T

1 paper

NM_005035.4

p.P910L

c.2729C>T

1 paper

NM_005035.4

p.S915F

c.2744C>T

1 paper

NM_005035.4

p.P918L

c.2753C>T

1 paper

NM_005035.4

p.Q921E

c.2761C>G

2 papers

NM_005035.4

p.C925*

c.2775C>A

1 paper

NM_005035.4

p.A932V

c.2795C>T

1 paper

NM_005035.4

p.R936C

c.2806C>T

1 paper

NM_005035.4

p.E947K

c.2839G>A