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.I581insFs

c.1741_1742insT

Surrounding Variants

6 papers

NM_206937.2

p.R580Q

c.1739G>A

30 papers

NM_206937.2

p.R580*

c.1738C>T

1 paper

NM_206937.2

p.E582fs

c.1744_1745fs

1 paper

NM_206937.2

p.E582fs

c.1744_1745fs

1 paper

NM_206937.2

p.I584fs

c.1750_1751fs

2 papers

NM_206937.2

p.E582_I584delFs

c.1746_1750del5

1 paper

NM_206937.2

p.R577H

c.1730G>A

3 papers

NM_206937.2

p.I584fs

c.1750_1751fs

1 paper

NM_206937.2

p.D586H

c.1756G>C

5 papers

NM_206937.2

p.I584_R585delFs

c.1751_1755del5

1 paper

NM_206937.2

p.E589K

c.1765G>A

3 papers

NM_206937.2

p.K588del1

c.1762_1763delCTT