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.A17E

c.50C>A

Surrounding Variants

1 paper

NM_206937.2

p.A17T

c.49G>A

1 paper

NM_206937.2

p.F16L

c.48T>G

1 paper

NM_206937.2

p.D18H

c.52G>C

1 paper

NM_206937.2

p.D18N

c.52G>A

1 paper

NM_206937.2

p.D18V

c.53A>T

3 papers

NM_206937.2

p.L19W

c.56T>G

1 paper

NM_206937.2

p.L19L

c.57G>A

2 papers

NM_206937.2

p.V14A

c.41T>C

1 paper

NM_206937.2

p.C20W

c.60T>G

1 paper

NM_206937.2

p.V14I

c.40G>A

1 paper

NM_206937.2

p.H13Q

c.39C>A

1 paper

NM_206937.2

p.H13insFs

c.37_38insCC