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

2 papers

NM_018109.4

p.L495R

c.1484T>G

Surrounding Variants

2 papers

NM_018109.4

p.V490L

c.1468G>T

2 papers

NM_018109.4

p.V490L

c.1468G>C

2 papers

NM_018109.4

p.K488N

c.1464A>T

2 papers

NM_018109.4

p.K488N

c.1464A>C

1 paper

NM_018109.4

p.A502V

c.1505C>T

2 papers

NM_018109.4

p.Q511*

c.1531C>T

17 papers

NM_018109.4

p.N478D

c.1432A>G

1 paper

NM_018109.4

p.I519V

c.1555A>G

2 papers

NM_018109.4

p.R523W

c.1567C>T

1 paper

NM_018109.4

p.P533S

c.1597C>T

3 papers

NM_018109.4

p.S546N

c.1637G>A

1 paper

NM_018109.4

p.K548T

c.1643A>C