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

1 paper

NM_013975.4

p.G940_V941delFs

c.2820_2821delGG

Surrounding Variants

1 paper

NM_013975.4

p.G940_V941del2

c.2818_2822del6

2 papers

NM_013975.4

p.R942Q

c.2825G>A

1 paper

NM_013975.4

p.L934fs

c.2800_2801fs

1 paper

NM_013975.4

p.R954H

c.2861G>A

3 papers

NM_013975.4

p.G964R

c.2890G>A

3 papers

NM_013975.4

p.G964R

c.2890G>C

1 paper

NM_013975.4

p.D971A

c.2912A>C

1 paper

NM_013975.4

p.V978M

c.2932G>A

3 papers

NM_013975.4

p.P986S

c.2956C>T

1 paper

NM_013975.4

p.A987V

c.2960C>T

2 papers

NM_013975.4

p.C999Y

c.2996G>A

2 papers

NM_013975.4

p.R1001W

c.3001C>T