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

Selected Variant

5 papers

NM_017554.3

p.N1322delFs

c.3965delA

Surrounding Variants

1 paper

NM_017554.3

p.E1319insFs

c.3956dupA

2 papers

NM_017554.3

p.E1319fs

c.3955_3956fs

1 paper

NM_017554.3

p.N1322delFs

c.3964_3965delAA

2 papers

NM_017554.3

p.N1322fs

c.3964_3965fs

1 paper

NM_017554.3

p.D1284H

c.3850G>C

1 paper

NM_017554.3

p.K1255Q

c.3763A>C

1 paper

NM_017554.3

p.I1244F

c.3730A>T

1 paper

NM_017554.3

p.S1233fs

c.3697_3698fs

1 paper

NM_017554.3

p.S1226F

c.3677C>T

1 paper

NM_017554.3

p.D1216V

c.3647A>T

1 paper

NM_017554.3

p.G1207A

c.3620G>C

1 paper

NM_017554.3

p.A1350V

c.4049C>T