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.S63Y

c.188C>A

Surrounding Variants

1 paper

NM_206937.2

p.F64fs

c.190_191fs

3 papers

NM_206937.2

p.T61_D62delins

c.183_184delinsCT

1 paper

NM_206937.2

p.F64_Y65delFs

c.192_193delAA

1 paper

NM_206937.2

p.V60V

c.180C>T

1 paper

NM_206937.2

p.D59E

c.177T>G

1 paper

NM_206937.2

p.A67T

c.199G>A

1 paper

NM_206937.2

p.M68I

c.204G>T

1 paper

NM_206937.2

p.M68I

c.204G>C

2 papers

NM_206937.2

p.M68I

c.204G>A

1 paper

NM_206937.2

p.N56K

c.168C>G

1 paper

NM_206937.2

p.I71V

c.211A>G

1 paper

NM_206937.2

p.L70del1

c.208_209delTAG