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.V763delFs

c.2288delT

Surrounding Variants

1 paper

NM_013975.4

p.S759I

c.2276G>T

2 papers

NM_013975.4

p.Y768H

c.2302T>C

1 paper

NM_013975.4

p.Q742H

c.2226G>C

1 paper

NM_013975.4

p.Q742H

c.2226G>T

1 paper

NM_013975.4

p.D735N

c.2203G>A

1 paper

NM_013975.4

p.S720N

c.2159G>A

1 paper

NM_013975.4

p.P718T

c.2152C>A

1 paper

NM_013975.4

p.P718A

c.2152C>G

1 paper

NM_013975.4

p.G705Splc

c.2113+1G>A

1 paper

NM_013975.4

p.D679V

c.2036A>T

1 paper

NM_013975.4

p.R671G

c.2011C>G

1 paper

NM_013975.4

p.K777_K778Splc

c.2332-91T>A