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.K345E

c.1033A>G

Surrounding Variants

1 paper

NM_206937.2

p.D350D

c.1050T>C

1 paper

NM_206937.2

p.K352R

c.1055A>G

1 paper

NM_206937.2

p.K352insFs

c.1054dupA

1 paper

NM_206937.2

p.M354T

c.1061T>C

1 paper

NM_206937.2

p.Y335H

c.1003T>C

1 paper

NM_206937.2

p.Y335Fs

c.1003delinsGAFs

1 paper

NM_206937.2

p.M354delFs

c.1062delC

1 paper

NM_206937.2

p.M333I

c.999G>T

1 paper

NM_206937.2

p.M333I

c.999G>C

1 paper

NM_206937.2

p.M333I

c.999G>A

1 paper

NM_206937.2

p.E356G

c.1067A>G

2 papers

NM_206937.2

p.E331A

c.992A>C