Varaico: Literature-Extracted Genetic Variants

LIG1

260 papers

RefSeq Summary

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene...

Pfam Domains

DNA_ligase_A_Naa 220–396UCSCDNA ligase N terminus

DNA_ligase_A_Maa 474–678UCSCATP dependent DNA ligase domain

DNA_ligase_A_Caa 703–814UCSCATP dependent DNA ligase C terminal region

Gene Aliases

HGNC Name

DNA ligase 1

HGNC Alias Symbols

LIGI; hLig1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 230 variants

26 papers

NM_000234.3

p.R771W

c.2311C>T

24 papers

NM_000234.3

p.R641L

c.1922G>T

17 papers

NM_000234.3

p.E566K

c.1696G>A

14 papers

NM_000234.3

p.E346A

c.1037A>C

14 papers

NM_000234.3

p.P529L

c.1586C>T

14 papers

NM_000234.3

p.E592A

c.1775A>C

11 papers

NM_000234.3

p.R3*

c.7C>T

9 papers

NM_000234.3

p.R409H

c.1226G>A

5 papers

NM_000234.3

p.P52L

c.155C>T

5 papers

NM_000234.3

p.G249E

c.746G>A

5 papers

NM_000234.3

p.T614I

c.1841C>T

5 papers

NM_000234.3

p.V753M

c.2257G>A