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.Y1004F

c.3011A>T

Surrounding Variants

1 paper

NM_005035.4

p.T1002M

c.3005C>T

1 paper

NM_005035.4

p.G1000V

c.2999G>T

1 paper

NM_005035.4

p.G1000A

c.2999G>C

1 paper

NM_005035.4

p.Y999*

c.2997C>G

1 paper

NM_005035.4

p.Y999*

c.2997C>A

1 paper

NM_005035.4

p.Y999F

c.2996A>T

1 paper

NM_005035.4

p.R1013C

c.3037C>T

1 paper

NM_005035.4

p.T993A

c.2977A>G

1 paper

NM_005035.4

p.G974A

c.2921G>C

1 paper

NM_005035.4

p.A960V

c.2879C>T

1 paper

NM_005035.4

p.S1029P

c.3085T>C

1 paper

NM_005035.4

p.E947K

c.2839G>A