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

1 paper

NM_017554.3

p.E889K

c.2665G>A

Surrounding Variants

1 paper

NM_017554.3

p.R914Q

c.2741G>A

1 paper

NM_017554.3

p.L860V

c.2578C>G

1 paper

NM_017554.3

p.R858I

c.2573G>T

1 paper

NM_017554.3

p.G924E

c.2771G>A

1 paper

NM_017554.3

p.R932Q

c.2795G>A

1 paper

NM_017554.3

p.E844G

c.2531A>G

1 paper

NM_017554.3

p.Q946L

c.2837A>T

1 paper

NM_017554.3

p.E825K

c.2473G>A

1 paper

NM_017554.3

p.A969G

c.2906C>G

1 paper

NM_017554.3

p.T976fs

c.2926_2927fs

1 paper

NM_017554.3

p.T976_V977delFs

c.2928_2929delTG

1 paper

NM_017554.3

p.P1011insFs

c.3032_3033insG