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.E438Splc

c.1313-3C>T

Surrounding Variants

1 paper

NM_018109.4

p.E438K

c.1312G>A

1 paper

NM_018109.4

p.L439fs

c.1315_1316fs

1 paper

NM_018109.4

p.E438Splc

c.1312+65G>C

1 paper

NM_018109.4

p.E443*

c.1327G>T

2 papers

NM_018109.4

p.I428T

c.1283T>C

1 paper

NM_018109.4

p.V413I

c.1237G>A

17 papers

NM_018109.4

p.N478D

c.1432A>G

2 papers

NM_018109.4

p.K488N

c.1464A>T

2 papers

NM_018109.4

p.K488N

c.1464A>C

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.L495R

c.1484T>G