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.K442T

c.1325A>C

Surrounding Variants

2 papers

NM_206937.2

p.Y438H

c.1312T>C

1 paper

NM_206937.2

p.S436_I437delFs

c.1307_1311del5

13 papers

NM_206937.2

p.W447C

c.1341G>T

12 papers

NM_206937.2

p.W447C

c.1341G>C

1 paper

NM_206937.2

p.P434_S436delFs

c.1302_1306del5

7 papers

NM_206937.2

p.K449Q

c.1345A>C

1 paper

NM_206937.2

p.K449R

c.1346A>G

1 paper

NM_206937.2

p.K449N

c.1347A>T

1 paper

NM_206937.2

p.K449N

c.1347A>C

4 papers

NM_206937.2

p.Q433del1

c.1297_1299delTTG

1 paper

NM_206937.2

p.K451R

c.1352A>G

1 paper

NM_206937.2

p.Q433R

c.1298A>G