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

3 papers

NM_206937.2

p.I26T

c.77T>C

Surrounding Variants

1 paper

NM_206937.2

p.Q27K

c.79C>A

4 papers

NM_206937.2

p.R25*

c.73C>T

1 paper

NM_206937.2

p.E24*

c.70G>T

1 paper

NM_206937.2

p.L23S

c.68T>C

1 paper

NM_206937.2

p.T22I

c.65C>T

1 paper

NM_206937.2

p.G31G

c.93A>G

1 paper

NM_206937.2

p.C20W

c.60T>G

1 paper

NM_206937.2

p.R32C

c.94C>T

1 paper

NM_206937.2

p.R32L

c.95G>T

1 paper

NM_206937.2

p.R32P

c.95G>C

1 paper

NM_206937.2

p.L19L

c.57G>A

3 papers

NM_206937.2

p.L19W

c.56T>G