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.Q218L

c.653A>T

Surrounding Variants

1 paper

NM_017554.3

p.S268G

c.802A>G

1 paper

NM_017554.3

p.S269L

c.806C>T

1 paper

NM_017554.3

p.L168*

c.503T>A

1 paper

NM_017554.3

p.L168*

c.503T>G

1 paper

NM_017554.3

p.M137V

c.409A>G

1 paper

NM_017554.3

p.D125A

c.374A>C

1 paper

NM_017554.3

p.N291D

c.871A>G

1 paper

NM_017554.3

p.P299L

c.896C>T

1 paper

NM_017554.3

p.E323E

c.969A>G

1 paper

NM_017554.3

p.W357L

c.1070G>T

1 paper

NM_017554.3

p.R450K

c.1349G>A

1 paper

NM_017554.3

p.E498A

c.1493A>C