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

64 papers

NM_206937.2

p.R814*

c.2440C>T

Surrounding Variants

1 paper

NM_206937.2

p.R815H

c.2444G>A

1 paper

NM_206937.2

p.T817I

c.2450C>T

1 paper

NM_206937.2

p.L810fs

c.2428_2429fs

1 paper

NM_206937.2

p.P809insFs

c.2427dupT

1 paper

NM_206937.2

p.P809A

c.2425C>G

3 papers

NM_206937.2

p.S822L

c.2465C>T

1 paper

NM_206937.2

p.L829P

c.2486T>C

2 papers

NM_206937.2

p.I796_A797insFs

c.2386_2389dup4

1 paper

NM_206937.2

p.A797D

c.2390C>A

2 papers

NM_206937.2

p.A797fs

c.2389_2390fs

1 paper

NM_206937.2

p.E791*

c.2371G>T

1 paper

NM_206937.2

p.I840V

c.2518A>G