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

1 paper

NM_000234.3

p.S714*

c.2141C>G

Surrounding Variants

1 paper

NM_000234.3

p.S714*

c.2141C>A

1 paper

NM_000234.3

p.V715L

c.2143G>T

1 paper

NM_000234.3

p.V715L

c.2143G>C

1 paper

NM_000234.3

p.Q706*

c.2116C>T

1 paper

NM_000234.3

p.K702E

c.2104A>G

2 papers

NM_000234.3

p.V694A

c.2081T>C

1 paper

NM_000234.3

p.R683Q

c.2048G>A

1 paper

NM_000234.3

p.R683W

c.2047C>T

1 paper

NM_000234.3

p.R679W

c.2035C>T

3 papers

NM_000234.3

p.R677L

c.2030G>T

1 paper

NM_000234.3

p.R672C

c.2014C>T

1 paper

NM_000234.3

p.E668_S669Splc

c.2005-29C>T