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

3 papers

NM_206937.2

p.L43L

c.127T>C

Surrounding Variants

1 paper

NM_206937.2

p.L43*

c.128T>G

1 paper

NM_206937.2

p.L43*

c.128T>A

1 paper

NM_206937.2

p.F42L

c.126T>A

1 paper

NM_206937.2

p.L43delFs

c.128delA

1 paper

NM_206937.2

p.D44A

c.131A>C

1 paper

NM_206937.2

p.W46*

c.137G>A

1 paper

NM_206937.2

p.W46*

c.138G>A

1 paper

NM_206937.2

p.L43_R47Fs

c.129_140delinsGTFs

1 paper

NM_206937.2

p.K48fs

c.142_143fs

1 paper

NM_206937.2

p.R37_H38insCC

c.109_113ins6

2 papers

NM_206937.2

p.I36M

c.108C>G

1 paper

NM_206937.2

p.I36insFs

c.106dupA