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.S734R

c.2200A>C

Surrounding Variants

1 paper

NM_206937.2

p.S734fs

c.2200_2201fs

1 paper

NM_206937.2

p.S734R

c.2202C>G

1 paper

NM_206937.2

p.S734R

c.2202C>A

1 paper

NM_206937.2

p.F735C

c.2204T>G

1 paper

NM_206937.2

p.C729G

c.2185T>G

1 paper

NM_206937.2

p.W738delFs

c.2214delC

1 paper

NM_206937.2

p.R741H

c.2222G>A

1 paper

NM_206937.2

p.W725R

c.2173T>C

1 paper

NM_206937.2

p.W725R

c.2173T>A

1 paper

NM_206937.2

p.A724E

c.2171C>A

1 paper

NM_206937.2

p.K722M

c.2165A>T

4 papers

NM_206937.2

p.K751Q

c.2251A>C