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.S161L

c.482C>T

Surrounding Variants

2 papers

NM_018109.4

p.R162C

c.484C>T

1 paper

NM_018109.4

p.R164W

c.490C>T

1 paper

NM_018109.4

p.N167D

c.499A>G

1 paper

NM_018109.4

p.S172*

c.515C>G

1 paper

NM_018109.4

p.A141V

c.422C>T

1 paper

NM_018109.4

p.C181*

c.543T>A

1 paper

NM_018109.4

p.A183T

c.547G>A

1 paper

NM_018109.4

p.T136P

c.406A>C

1 paper

NM_018109.4

p.T133A

c.397A>G

1 paper

NM_018109.4

p.G130_T131insG

c.388_392ins3

1 paper

NM_018109.4

p.K121Q

c.361A>C

1 paper

NM_018109.4

p.Y113C

c.338A>G