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

1–12 of 98 variants

17 papers

NM_018109.4

p.N478D

c.1432A>G

3 papers

NM_018109.4

p.D325A

c.974A>C

3 papers

NM_018109.4

p.S546N

c.1637G>A

2 papers

NM_018109.4

p.T52T

c.156A>T

2 papers

NM_018109.4

p.S161L

c.482C>T

2 papers

NM_018109.4

p.R162C

c.484C>T

2 papers

NM_018109.4

p.R278I

c.833G>T

2 papers

NM_018109.4

p.A345G

c.1034C>G

2 papers

NM_018109.4

p.R358W

c.1072C>T

2 papers

NM_018109.4

p.I385F

c.1153A>T

2 papers

NM_018109.4

p.I428T

c.1283T>C

2 papers

NM_018109.4

p.E438Splc

c.1313-3C>T