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.E625D

c.1875A>C

Surrounding Variants

1 paper

NM_206937.2

p.E625D

c.1875A>T

1 paper

NM_206937.2

p.Q624K

c.1870C>A

1 paper

NM_206937.2

p.R628W

c.1882C>T

1 paper

NM_206937.2

p.M634V

c.1900A>G

2 papers

NM_206937.2

p.K635fs

c.1903_1904fs

2 papers

NM_206937.2

p.K635R

c.1904A>G

2 papers

NM_206937.2

p.K635fs

c.1903_1904fs

9 papers

NM_206937.2

p.K635delFs

c.1904delT

1 paper

NM_206937.2

p.H614Y

c.1840C>T

1 paper

NM_206937.2

p.T650A

c.1948A>G

1 paper

NM_206937.2

p.N651D

c.1951A>G

1 paper

NM_206937.2

p.E600K

c.1798G>A