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.K1109K

c.3327G>A

Surrounding Variants

1 paper

NM_005035.4

p.M1133T

c.3398T>C

1 paper

NM_005035.4

p.Y1100H

c.3298T>C

1 paper

NM_005035.4

p.S1097N

c.3290G>A

1 paper

NM_005035.4

p.R1141Splc

c.3422+197G>T

2 papers

NM_005035.4

p.K1087R

c.3260A>G

1 paper

NM_005035.4

p.P1081P

c.3243C>G

1 paper

NM_005035.4

p.V1071fs

c.3211_3212fs

1 paper

NM_005035.4

p.E1056K

c.3166G>A

1 paper

NM_005035.4

p.S1029P

c.3085T>C

1 paper

NM_005035.4

p.H1156Y

c.3466C>T

1 paper

NM_005035.4

p.R1190Q

c.3569G>A

3 papers

NM_005035.4

p.S1193F

c.3578C>T