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

3 papers

NM_013975.4

p.E612V

c.1835A>T

Surrounding Variants

1 paper

NM_013975.4

p.R614G

c.1840C>G

1 paper

NM_013975.4

p.K615*

c.1843A>T

3 papers

NM_013975.4

p.P609L

c.1826C>T

1 paper

NM_013975.4

p.V622I

c.1864G>A

1 paper

NM_013975.4

p.E623Q

c.1867G>C

1 paper

NM_013975.4

p.N626D

c.1876A>G

1 paper

NM_013975.4

p.R627Q

c.1880G>A

1 paper

NM_013975.4

p.V636I

c.1906G>A

1 paper

NM_013975.4

p.T647I

c.1940C>T

1 paper

NM_013975.4

p.I650I

c.1950C>T

1 paper

NM_013975.4

p.R671G

c.2011C>G

1 paper

NM_013975.4

p.D679V

c.2036A>T