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.Q199H

c.597G>T

Surrounding Variants

1 paper

NM_013975.4

p.Q199H

c.597G>C

1 paper

NM_013975.4

p.K201E

c.601A>G

1 paper

NM_013975.4

p.G190C

c.568G>T

1 paper

NM_013975.4

p.S186fs

c.556_557fs

1 paper

NM_013975.4

p.S186delFs

c.556delT

5 papers

NM_013975.4

p.R224W

c.670C>T

1 paper

NM_013975.4

p.A231Splc

c.691+579A>G

1 paper

NM_013975.4

p.H180fs

c.538_539fs

1 paper

NM_013975.4

p.T178I

c.533C>T

1 paper

NM_013975.4

p.T178A

c.532A>G

1 paper

NM_013975.4

p.I157T

c.470T>C

1 paper

NM_013975.4

p.I157S

c.470T>G