Varaico: Literature-Extracted Genetic Variants

MTPAP

172 papers

RefSeq Summary

The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependen...

Pfam Domains

RLaa 62–132UCSCRL domain

MTPAP-like_centralaa 186–345UCSCPoly(A) RNA polymerase, mitochondrial-like, central palm domain

PAP_assocaa 436–484UCSCCid1 family poly A polymerase

Gene Aliases

HGNC Name

mitochondrial poly(A) polymerase

HGNC Previous Symbol

PAPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018109.4

p.R24Q

c.71G>A

Surrounding Variants

1 paper

NM_018109.4

p.T20T

c.60T>A

1 paper

NM_018109.4

p.R18*

c.52A>T

1 paper

NM_018109.4

p.S31C

c.91A>T

1 paper

NM_018109.4

p.A16A

c.48C>T

1 paper

NM_018109.4

p.A16S

c.46G>T

1 paper

NM_018109.4

p.V36M

c.106G>A

1 paper

NM_018109.4

p.T10A

c.28A>G

1 paper

NM_018109.4

p.D39G

c.116A>G

1 paper

NM_018109.4

p.L8H

c.23T>A

1 paper

NM_018109.4

p.L8F

c.22C>T

1 paper

NM_018109.4

p.E44insFs

c.130_131insG

1 paper

NM_018109.4

p.V3I

c.7G>A