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.L214insFs

c.642dupG

Surrounding Variants

3 papers

NM_206937.2

p.H215Y

c.643C>T

1 paper

NM_206937.2

p.V217D

c.650T>A

1 paper

NM_206937.2

p.A212T

c.634G>A

2 papers

NM_206937.2

p.D210N

c.628G>A

4 papers

NM_206937.2

p.T219_L221delFs

c.657_661del5

1 paper

NM_206937.2

p.H208R

c.623A>G

3 papers

NM_206937.2

p.S205fs

c.613_614fs

1 paper

NM_206937.2

p.V224D

c.671T>A

10 papers

NM_206937.2

p.S205delFs

c.613delA

3 papers

NM_206937.2

p.S205fs

c.613_614fs

1 paper

NM_206937.2

p.I203I

c.609C>T

1 paper

NM_206937.2

p.I203V

c.607A>G