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

45 papers

NM_206937.2

p.A3V

c.8C>T

Surrounding Variants

4 papers

NM_206937.2

p.A3D

c.8C>A

3 papers

NM_206937.2

p.A3A

c.9C>T

1 paper

NM_206937.2

p.A3fs

c.7_8fs

1 paper

NM_206937.2

p.S4P

c.10T>C

1 paper

NM_206937.2

p.A2S

c.4G>T

2 papers

NM_206937.2

p.A2T

c.4G>A

1 paper

NM_206937.2

p.M1I

c.3G>T

1 paper

NM_206937.2

p.M1_A2insFs

c.3_4insA

1 paper

NM_206937.2

p.Q5*

c.13C>T

1 paper

NM_206937.2

p.M1T

c.2T>C

1 paper

NM_206937.2

p.M1L

c.1A>T

1 paper

NM_206937.2

p.M1L

c.1A>C