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.P393S

c.1177C>T

Surrounding Variants

1 paper

NM_018109.4

p.P394S

c.1180C>T

2 papers

NM_018109.4

p.I385F

c.1153A>T

1 paper

NM_018109.4

p.V384A

c.1151T>C

1 paper

NM_018109.4

p.G372_I375delFs

c.1115_1125del11

1 paper

NM_018109.4

p.S368I

c.1103G>T

1 paper

NM_018109.4

p.T367A

c.1099A>G

1 paper

NM_018109.4

p.R362R

c.1086A>G

2 papers

NM_018109.4

p.R358W

c.1072C>T

1 paper

NM_018109.4

p.V354L

c.1060G>T

1 paper

NM_018109.4

p.V354L

c.1060G>C

2 papers

NM_018109.4

p.A345G

c.1034C>G

1 paper

NM_018109.4

p.G344S

c.1030G>A