Varaico: Literature-Extracted Genetic Variants

PARP14

103 papers

RefSeq Summary

This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased ...

Pfam Domains

RRM_PARP14_1aa 9–88UCSCPAR14-like, first RRM domain

RRM_PARP14_2aa 146–225UCSCPARP14, second RRM domain

RRM_PARP14_3aa 227–308UCSCPARP14, third RRM domain

KH_PARP14_1aa 314–394UCSCPARP14, first type I KH domain

KH_PARP14_2aa 398–466UCSCPARP14, second type I KH domain

KH_PARP14_3aa 471–531UCSCPARP14, third type I KH domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase family member 14

HGNC Alias Symbols

KIAA1268; pART8; ARTD8; BAL2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 111 variants

5 papers

NM_017554.3

p.N1322delFs

c.3965delA

2 papers

NM_017554.3

p.A561E

c.1682C>A

2 papers

NM_017554.3

p.T631A

c.1891A>G

2 papers

NM_017554.3

p.S1156N

c.3467G>A

2 papers

NM_017554.3

p.E1319fs

c.3955_3956fs

2 papers

NM_017554.3

p.N1322fs

c.3964_3965fs

1 paper

NM_017554.3

p.M1T

c.2T>C

1 paper

NM_017554.3

p.A2V

c.5C>T

1 paper

NM_017554.3

p.K35N

c.105G>C

1 paper

NM_017554.3

p.K35N

c.105G>T

1 paper

NM_017554.3

p.S50N

c.149G>A

1 paper

NM_017554.3

p.D62A

c.185A>C