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.R505fs

c.1513_1514fs

Surrounding Variants

1 paper

NM_206937.2

p.R505C

c.1513C>T

1 paper

NM_206937.2

p.R505insFs

c.1513_1514insTC

1 paper

NM_206937.2

p.S504fs

c.1510_1511fs

1 paper

NM_206937.2

p.S504_R505insFs

c.1512_1513dupTC

5 papers

NM_206937.2

p.S504_R505delFs

c.1512_1513delGA

1 paper

NM_206937.2

p.R505fs

c.1513_1514fs

1 paper

NM_206937.2

p.R505R

c.1515T>C

1 paper

NM_206937.2

p.V506_G507insA

c.1516_1520ins3

1 paper

NM_206937.2

p.F500fs

c.1498_1499fs

1 paper

NM_206937.2

p.V499A

c.1496T>C

1 paper

NM_206937.2

p.S498F

c.1493C>T

1 paper

NM_206937.2

p.P493delFs

c.1477delG