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

1–12 of 430 variants

81 papers

NM_206937.2

p.T9I

c.26C>T

75 papers

NM_206937.2

p.R278H

c.833G>A

64 papers

NM_206937.2

p.R814*

c.2440C>T

45 papers

NM_206937.2

p.A3V

c.8C>T

32 papers

NM_206937.2

p.K424_R425delFs

c.1271_1275del5

31 papers

NM_206937.2

p.G469E

c.1406G>A

30 papers

NM_206937.2

p.R580*

c.1738C>T

24 papers

NM_206937.2

p.H282L

c.845A>T

23 papers

NM_206937.2

p.Q280R

c.839A>G

22 papers

NM_206937.2

p.K424fs

c.1270_1271fs

21 papers

NM_206937.2

p.Y288C

c.863A>G

19 papers

NM_206937.2

p.K424fs

c.1270_1271fs