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.L290P

c.869T>C

Surrounding Variants

1 paper

NM_013975.4

p.K282R

c.845A>G

1 paper

NM_013975.4

p.Y279F

c.836A>T

1 paper

NM_013975.4

p.N276K

c.828T>A

1 paper

NM_013975.4

p.N276K

c.828T>G

4 papers

NM_013975.4

p.R267*

c.799C>T

1 paper

NM_013975.4

p.E265K

c.793G>A

1 paper

NM_013975.4

p.R264Q

c.791G>A

1 paper

NM_013975.4

p.C254R

c.760T>C

1 paper

NM_013975.4

p.S252S

c.756C>T

1 paper

NM_013975.4

p.P243S

c.727C>T

2 papers

NM_013975.4

p.S241L

c.722C>T

1 paper

NM_013975.4

p.E238K

c.712G>A