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.M371I

c.1113G>T

Surrounding Variants

1 paper

NM_206937.2

p.M371I

c.1113G>C

1 paper

NM_206937.2

p.M371I

c.1113G>A

2 papers

NM_206937.2

p.N373I

c.1118A>T

1 paper

NM_206937.2

p.N373S

c.1118A>G

1 paper

NM_206937.2

p.V369I

c.1105G>A

2 papers

NM_206937.2

p.D368V

c.1103A>T

1 paper

NM_206937.2

p.D368Y

c.1102G>T

1 paper

NM_206937.2

p.C365F

c.1094G>T

1 paper

NM_206937.2

p.C363*

c.1089T>A

1 paper

NM_206937.2

p.T381delFs

c.1142delG

4 papers

NM_206937.2

p.L382fs

c.1144_1145fs

7 papers

NM_206937.2

p.L382delFs

c.1144_1145delAG