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.D293A

c.878A>C

Surrounding Variants

1 paper

NM_018109.4

p.D293N

c.877G>A

1 paper

NM_018109.4

p.E290D

c.870G>T

1 paper

NM_018109.4

p.E290D

c.870G>C

1 paper

NM_018109.4

p.P297A

c.889C>G

1 paper

NM_018109.4

p.G289E

c.866G>A

1 paper

NM_018109.4

p.I305T

c.914T>C

2 papers

NM_018109.4

p.R278I

c.833G>T

1 paper

NM_018109.4

p.R309Q

c.926G>A

1 paper

NM_018109.4

p.M267I

c.801G>A

3 papers

NM_018109.4

p.D325A

c.974A>C

1 paper

NM_018109.4

p.S336I

c.1007G>T

1 paper

NM_018109.4

p.G344S

c.1030G>A