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.L774V

c.2320C>G

Surrounding Variants

1 paper

NM_206937.2

p.L774L

c.2322G>A

1 paper

NM_206937.2

p.I767V

c.2299A>G

1 paper

NM_206937.2

p.G762S

c.2284G>A

1 paper

NM_206937.2

p.E791*

c.2371G>T

1 paper

NM_206937.2

p.E757K

c.2269G>A

1 paper

NM_206937.2

p.R756H

c.2267G>A

1 paper

NM_206937.2

p.R756S

c.2266C>A

2 papers

NM_206937.2

p.A797fs

c.2389_2390fs

4 papers

NM_206937.2

p.K751Q

c.2251A>C

2 papers

NM_206937.2

p.I796_A797insFs

c.2386_2389dup4

1 paper

NM_206937.2

p.A797D

c.2390C>A

1 paper

NM_206937.2

p.R741H

c.2222G>A