Varaico: Literature-Extracted Genetic Variants

LIG3

221 papers

RefSeq Summary

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein en...

Pfam Domains

zf-PARPaa 96–181UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

DNA_ligase_A_Naa 262–434UCSCDNA ligase N terminus

DNA_ligase_A_Maa 483–677UCSCATP dependent DNA ligase domain

DNA_ligase_A_Caa 704–814UCSCATP dependent DNA ligase C terminal region

LIG3_BRCTaa 933–1003UCSCDNA ligase 3 BRCT domain

Gene Aliases

HGNC Name

DNA ligase 3

HGNC Previous Symbol

LIG2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 155 variants

6 papers

NM_013975.4

p.H28P

c.83A>C

5 papers

NM_013975.4

p.R224W

c.670C>T

5 papers

NM_013975.4

p.R811*

c.2431C>T

4 papers

NM_013975.4

p.W29*

c.86G>A

4 papers

NM_013975.4

p.W29*

c.87G>A

4 papers

NM_013975.4

p.R267*

c.799C>T

4 papers

NM_013975.4

p.R867H

c.2600G>A

3 papers

NM_013975.4

p.R343Q

c.1028G>A

3 papers

NM_013975.4

p.P609L

c.1826C>T

3 papers

NM_013975.4

p.E612V

c.1835A>T

3 papers

NM_013975.4

p.G964R

c.2890G>A

3 papers

NM_013975.4

p.G964R

c.2890G>C