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.K192_D193del2

c.574_578del6

Surrounding Variants

1 paper

NM_206937.2

p.I191L

c.571A>T

1 paper

NM_206937.2

p.I191L

c.571A>C

1 paper

NM_206937.2

p.I190T

c.569T>C

2 papers

NM_206937.2

p.R188Q

c.563G>A

3 papers

NM_206937.2

p.Q200fs

c.598_599fs

2 papers

NM_206937.2

p.R188W

c.562C>T

1 paper

NM_206937.2

p.I187R

c.560T>G

1 paper

NM_206937.2

p.Q200H

c.600G>T

1 paper

NM_206937.2

p.Q200fs

c.598_599fs

1 paper

NM_206937.2

p.Q200H

c.600G>C

4 papers

NM_206937.2

p.S199_Q200delFs

c.597_600del4

1 paper

NM_206937.2

p.I187V

c.559A>G