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

1–12 of 150 variants

3 papers

NM_005035.4

p.S96N

c.287G>A

3 papers

NM_005035.4

p.Q102*

c.304C>T

3 papers

NM_005035.4

p.E555A

c.1664A>C

3 papers

NM_005035.4

p.D870N

c.2608G>A

3 papers

NM_005035.4

p.T880_G881Splc

c.2641-1G>C

3 papers

NM_005035.4

p.S1193F

c.3578C>T

2 papers

NM_005035.4

p.P38S

c.112C>T

2 papers

NM_005035.4

p.R131Q

c.392G>A

2 papers

NM_005035.4

p.D237N

c.709G>A

2 papers

NM_005035.4

p.H250D

c.748C>G

2 papers

NM_005035.4

p.P294L

c.881C>T

2 papers

NM_005035.4

p.T498T

c.1494C>T