Varaico: Literature-Extracted Genetic Variants

REV3L

269 papers

RefSeq Summary

The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it prote...

Pfam Domains

REV3_Naa 1–55UCSCDNA polymerase zeta catalytic subunit, N-terminal

POL3_Naa 56–134UCSCDNA polymerase delta catalytic subunit-like, N-terminal domain

DUF4683aa 745–1133UCSCDomain of unknown function (DUF4683)

DNA_pol_B_exo1aa 2235–2484UCSCDNA polymerase family B, exonuclease domain

Gene Aliases

HGNC Name

REV3 like, DNA directed polymerase zeta catalytic subunit

HGNC Alias Symbols

POLZ; REV3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 373 variants

7 papers

NM_001372078.1

p.T1224I

c.3671C>T

6 papers

NM_001372078.1

p.E2015V

c.6044A>T

5 papers

NM_001372078.1

p.S1220L

c.3659C>T

5 papers

NM_001372078.1

p.D1812H

c.5434G>C

5 papers

NM_001372078.1

p.D2781A

c.8342A>C

5 papers

NM_001372078.1

p.D2783A

c.8348A>C

4 papers

NM_001372078.1

p.R187W

c.559A>T

4 papers

NM_001372078.1

p.S1119G

c.3355A>G

4 papers

NM_001372078.1

p.Y1156C

c.3467A>G

4 papers

NM_001372078.1

p.R1970H

c.5909G>A

4 papers

NM_001372078.1

p.R2762Q

c.8285G>A

3 papers

NM_001372078.1

p.D10A

c.29A>C