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

Selected Variant

2 papers

NM_000234.3

p.R235W

c.703C>T

Surrounding Variants

5 papers

NM_000234.3

p.G249E

c.746G>A

1 paper

NM_000234.3

p.K253E

c.757A>G

1 paper

NM_000234.3

p.E254D

c.762G>T

1 paper

NM_000234.3

p.E254D

c.762G>C

1 paper

NM_000234.3

p.G255A

c.764G>C

3 papers

NM_000234.3

p.G259Splc

c.776+5G>T

1 paper

NM_000234.3

p.F231C

c.692T>G

1 paper

NM_000234.3

p.K226R

c.677A>G

1 paper

NM_000234.3

p.P225L

c.674C>T

1 paper

NM_000234.3

p.G259Splc

c.776+220C>T

1 paper

NM_000234.3

p.E216K

c.646G>A

2 papers

NM_000234.3

p.P203L

c.608C>T