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

2 papers

NM_206937.2

p.E426delFs

c.1277_1278delTT

Surrounding Variants

3 papers

NM_206937.2

p.E427A

c.1280A>C

2 papers

NM_206937.2

p.G428R

c.1282G>C

1 paper

NM_206937.2

p.G428R

c.1282G>A

1 paper

NM_206937.2

p.K424_R425delFs

c.1271_1274del4

32 papers

NM_206937.2

p.K424_R425delFs

c.1271_1275del5

2 papers

NM_206937.2

p.E426fs

c.1276_1277fs

22 papers

NM_206937.2

p.K424fs

c.1270_1271fs

2 papers

NM_206937.2

p.K424R

c.1271A>G

1 paper

NM_206937.2

p.L418_D423insFs

c.1253_1269dup17

19 papers

NM_206937.2

p.K424fs

c.1270_1271fs

2 papers

NM_206937.2

p.K432N

c.1296A>T

2 papers

NM_206937.2

p.K432N

c.1296A>C