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

2 papers

NM_206937.2

p.G276D

c.827G>A

Surrounding Variants

1 paper

NM_206937.2

p.E277A

c.830A>C

1 paper

NM_206937.2

p.D275A

c.824A>C

1 paper

NM_206937.2

p.R278C

c.832C>T

14 papers

NM_206937.2

p.R278L

c.833G>T

3 papers

NM_206937.2

p.R278P

c.833G>C

75 papers

NM_206937.2

p.R278H

c.833G>A

3 papers

NM_206937.2

p.K273R

c.818A>G

23 papers

NM_206937.2

p.Q280R

c.839A>G

1 paper

NM_206937.2

p.Q280Q

c.840A>G

1 paper

NM_206937.2

p.M281insFs

c.842_843insT

24 papers

NM_206937.2

p.H282L

c.845A>T

2 papers

NM_206937.2

p.H282R

c.845A>G