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.W893G

c.2677T>G

Surrounding Variants

1 paper

NM_206937.2

p.W893R

c.2677T>C

1 paper

NM_206937.2

p.W893R

c.2677T>A

1 paper

NM_206937.2

p.F886Y

c.2657T>A

1 paper

NM_206937.2

p.K900Q

c.2698A>C

1 paper

NM_206937.2

p.R879_K883del5

c.2635_2648del15

1 paper

NM_206937.2

p.R884K

c.2651G>A

2 papers

NM_206937.2

p.Q904*

c.2710C>T

1 paper

NM_206937.2

p.I911I

c.2733T>A

1 paper

NM_206937.2

p.*912K

c.2734T>A

5 papers

NM_206937.2

p.R871H

c.2612G>A

1 paper

NM_206937.2

p.I864_I865delFs

c.2592_2595del4

1 paper

NM_206937.2

p.H862delFs

c.2585_2586delAT