Varaico: Literature-Extracted Genetic Variants

TIPARP

220 papers

RefSeq Summary

This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involve...

Pfam Domains

PARPaa 471–650UCSCPoly(ADP-ribose) polymerase catalytic domain

Gene Aliases

HGNC Name

TCDD inducible poly(ADP-ribose) polymerase

HGNC Alias Symbols

DKFZP434J214; DKFZp686N0351; DDF1; PARP7; PARP-7; PARP-1; pART14; RM1; ARTD14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015508.5

p.S203T

c.608G>C

Surrounding Variants

1 paper

NM_015508.5

p.S203G

c.607A>G

1 paper

NM_015508.5

p.T202P

c.604A>C

1 paper

NM_015508.5

p.I199N

c.596T>A

1 paper

NM_015508.5

p.L220I

c.658C>A

1 paper

NM_015508.5

p.L222F

c.664C>T

1 paper

NM_015508.5

p.I182delFs

c.545delT

1 paper

NM_015508.5

p.L226L

c.676C>T

1 paper

NM_015508.5

p.L226R

c.677T>G

1 paper

NM_015508.5

p.L230insFs

c.689_690insT

1 paper

NM_015508.5

p.D176A

c.527A>C

1 paper

NM_015508.5

p.M244V

c.730A>G

1 paper

NM_015508.5

p.T161_P172del12

c.481_515del36