Varaico: Literature-Extracted Genetic Variants

LIG4

624 papers

RefSeq Summary

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombinatio...

Pfam Domains

DNA_ligase_A_Naa 15–208UCSCDNA ligase N terminus

DNA_ligase_A_Maa 248–451UCSCATP dependent DNA ligase domain

DNA_ligase_A_Caa 476–588UCSCATP dependent DNA ligase C terminal region

BRCTaa 654–730UCSCBRCA1 C Terminus (BRCT) domain

DNA_ligase_IVaa 750–783UCSCDNA ligase IV

BRCTaa 813–898UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

DNA ligase 4

HGNC Previous Name

ligase IV, DNA, ATP-dependent

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206937.2

p.E78_R79delFs

c.233_236del4

Surrounding Variants

1 paper

NM_206937.2

p.R79delFs

c.237delT

1 paper

NM_206937.2

p.R79K

c.236G>A

2 papers

NM_206937.2

p.E78K

c.232G>A

2 papers

NM_206937.2

p.Y82*

c.246T>G

1 paper

NM_206937.2

p.G83V

c.248G>T

2 papers

NM_206937.2

p.I84N

c.251T>A

1 paper

NM_206937.2

p.I84delFs

c.252delA

1 paper

NM_206937.2

p.E86K

c.256G>A

1 paper

NM_206937.2

p.E86A

c.257A>C

1 paper

NM_206937.2

p.I71V

c.211A>G

1 paper

NM_206937.2

p.L70del1

c.208_209delTAG

1 paper

NM_206937.2

p.A90P

c.268G>C