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.E663G

c.1988A>G

Surrounding Variants

3 papers

NM_206937.2

p.N657_D661del5

c.1969_1982del15

1 paper

NM_206937.2

p.V666A

c.1997T>C

7 papers

NM_206937.2

p.F659F

c.1977T>C

7 papers

NM_206937.2

p.I658V

c.1972A>G

2 papers

NM_206937.2

p.G669E

c.2006G>A

1 paper

NM_206937.2

p.I655V

c.1963A>G

1 paper

NM_206937.2

p.S672R

c.2014A>C

1 paper

NM_206937.2

p.S672R

c.2016C>G

1 paper

NM_206937.2

p.S672R

c.2016C>A

1 paper

NM_206937.2

p.Q673H

c.2019G>T

1 paper

NM_206937.2

p.Q673H

c.2019G>C

1 paper

NM_206937.2

p.V652I

c.1954G>A