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.Q493*

c.1477C>T

Surrounding Variants

1 paper

NM_005035.4

p.A489V

c.1466C>T

2 papers

NM_005035.4

p.T498T

c.1494C>T

1 paper

NM_005035.4

p.V486V

c.1458C>G

1 paper

NM_005035.4

p.Q485_V486Splc

c.1455+4C>G

1 paper

NM_005035.4

p.C472C

c.1416C>T

1 paper

NM_005035.4

p.A541S

c.1621G>T

1 paper

NM_005035.4

p.E457Q

c.1369G>C

3 papers

NM_005035.4

p.E555A

c.1664A>C

2 papers

NM_005035.4

p.P566S

c.1696C>T

1 paper

NM_005035.4

p.A580T

c.1738G>A

2 papers

NM_005035.4

p.S611F

c.1832C>T

1 paper

NM_005035.4

p.A430_R431Splc

c.1290+77G>A