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.D105A

c.314A>C

Surrounding Variants

1 paper

NM_206937.2

p.D102_D105del4

c.304_314del12

1 paper

NM_206937.2

p.K104R

c.311A>G

1 paper

NM_206937.2

p.K104ins2

c.310_311ins6

2 papers

NM_206937.2

p.G103E

c.308G>A

1 paper

NM_206937.2

p.G103*

c.307G>T

1 paper

NM_206937.2

p.G103R

c.307G>C

1 paper

NM_206937.2

p.G103R

c.307G>A

1 paper

NM_206937.2

p.L109F

c.325C>T

1 paper

NM_206937.2

p.R101S

c.303A>T

1 paper

NM_206937.2

p.R101S

c.303A>C

1 paper

NM_206937.2

p.P100L

c.299C>T

1 paper

NM_206937.2

p.T114K

c.341C>A