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.I840V

c.2518A>G

Surrounding Variants

8 papers

NM_206937.2

p.A842D

c.2525C>A

1 paper

NM_206937.2

p.G849R

c.2545G>A

1 paper

NM_206937.2

p.A850T

c.2548G>A

1 paper

NM_206937.2

p.L829P

c.2486T>C

2 papers

NM_206937.2

p.A857T

c.2569G>A

3 papers

NM_206937.2

p.S822L

c.2465C>T

1 paper

NM_206937.2

p.G859E

c.2576G>A

1 paper

NM_206937.2

p.H862fs

c.2584_2585fs

3 papers

NM_206937.2

p.H862Y

c.2584C>T

2 papers

NM_206937.2

p.H862Q

c.2586T>G

2 papers

NM_206937.2

p.H862Q

c.2586T>A

1 paper

NM_206937.2

p.T817I

c.2450C>T