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.P248insFs

c.743_744insGG

Surrounding Variants

14 papers

NM_206937.2

p.M249V

c.745A>G

1 paper

NM_206937.2

p.F246L

c.738T>G

1 paper

NM_206937.2

p.F246L

c.738T>A

1 paper

NM_206937.2

p.F246L

c.736T>C

2 papers

NM_206937.2

p.A254delFs

c.760delC

1 paper

NM_206937.2

p.I240F

c.718A>T

1 paper

NM_206937.2

p.S239delFs

c.716delG

1 paper

NM_206937.2

p.I238T

c.713T>C

1 paper

NM_206937.2

p.D237N

c.709G>A

1 paper

NM_206937.2

p.E260A

c.779A>C

1 paper

NM_206937.2

p.D262D

c.786T>C

1 paper

NM_206937.2

p.V233V

c.699A>T