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.S359R

c.1075A>C

Surrounding Variants

1 paper

NM_005035.4

p.S359R

c.1077C>G

1 paper

NM_005035.4

p.S359R

c.1077C>A

1 paper

NM_005035.4

p.L360V

c.1078C>G

1 paper

NM_005035.4

p.V368I

c.1102G>A

1 paper

NM_005035.4

p.K349K

c.1047G>A

1 paper

NM_005035.4

p.L348L

c.1042C>T

1 paper

NM_005035.4

p.L339P

c.1016T>C

1 paper

NM_005035.4

p.E326G

c.977A>G

1 paper

NM_005035.4

p.R318Splc

c.953+1G>C

1 paper

NM_005035.4

p.T315A

c.943A>G

1 paper

NM_005035.4

p.D310E

c.930C>G

1 paper

NM_005035.4

p.D310E

c.930C>A