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.Q173*

c.517C>T

Surrounding Variants

1 paper

NM_206937.2

p.S170fs

c.508_509fs

1 paper

NM_206937.2

p.K169insFs

c.506_507insA

1 paper

NM_206937.2

p.I167R

c.500T>G

1 paper

NM_206937.2

p.D165G

c.494A>G

1 paper

NM_206937.2

p.D165N

c.493G>A

1 paper

NM_206937.2

p.K164R

c.491A>G

1 paper

NM_206937.2

p.R163I

c.488G>T

1 paper

NM_206937.2

p.R163K

c.488G>A

1 paper

NM_206937.2

p.A161fs

c.481_482fs

2 papers

NM_206937.2

p.A161delFs

c.482delG

1 paper

NM_206937.2

p.N159S

c.476A>G

1 paper

NM_206937.2

p.I187V

c.559A>G