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.D300A

c.899A>C

Surrounding Variants

3 papers

NM_206937.2

p.D300N

c.898G>A

1 paper

NM_206937.2

p.Y298H

c.892T>C

3 papers

NM_206937.2

p.G303R

c.907G>C

1 paper

NM_206937.2

p.G303S

c.907G>A

1 paper

NM_206937.2

p.R293_G295delFs

c.879_883del5

1 paper

NM_206937.2

p.T307A

c.919A>G

1 paper

NM_206937.2

p.R293*

c.877C>T

1 paper

NM_206937.2

p.S310_L311ins6

c.928_932ins18

21 papers

NM_206937.2

p.Y288C

c.863A>G

1 paper

NM_206937.2

p.P313fs

c.937_938fs

4 papers

NM_206937.2

p.T312delFs

c.935delG

1 paper

NM_206937.2

p.D286E

c.858T>G