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

Selected Variant

4 papers

NM_013975.4

p.W29*

c.87G>A

Surrounding Variants

1 paper

NM_013975.4

p.R30C

c.88C>T

4 papers

NM_013975.4

p.W29*

c.86G>A

1 paper

NM_013975.4

p.R30H

c.89G>A

6 papers

NM_013975.4

p.H28P

c.83A>C

1 paper

NM_013975.4

p.R33T

c.98G>C

1 paper

NM_013975.4

p.R25*

c.73C>T

1 paper

NM_013975.4

p.D42N

c.124G>A

1 paper

NM_013975.4

p.H47Y

c.139C>T

1 paper

NM_013975.4

p.P10R

c.29C>G

1 paper

NM_013975.4

p.F9I

c.25T>A

1 paper

NM_013975.4

p.I7L

c.19A>C

1 paper

NM_013975.4

p.K6R

c.17A>G