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.E461A

c.1382A>C

Surrounding Variants

2 papers

NM_206937.2

p.E461G

c.1382A>G

1 paper

NM_206937.2

p.E461*

c.1381G>T

3 papers

NM_206937.2

p.G468E

c.1403G>A

31 papers

NM_206937.2

p.G469E

c.1406G>A

1 paper

NM_206937.2

p.P452L

c.1355C>T

2 papers

NM_206937.2

p.W471*

c.1412G>A

1 paper

NM_206937.2

p.K451R

c.1352A>G

2 papers

NM_206937.2

p.W471*

c.1413G>A

1 paper

NM_206937.2

p.K449N

c.1347A>T

1 paper

NM_206937.2

p.K449N

c.1347A>C

1 paper

NM_206937.2

p.K449R

c.1346A>G

7 papers

NM_206937.2

p.K449Q

c.1345A>C