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.R387C

c.1159C>T

Surrounding Variants

1 paper

NM_000234.3

p.E384K

c.1150G>A

1 paper

NM_000234.3

p.L381R

c.1142T>G

2 papers

NM_000234.3

p.G380R

c.1138G>C

2 papers

NM_000234.3

p.G380R

c.1138G>A

1 paper

NM_001289064.2

p.P327L

c.980C>T

1 paper

NM_000234.3

p.K376R

c.1127A>G

1 paper

NM_000234.3

p.K376*

c.1126A>T

1 paper

NM_000234.3

p.G403R

c.1207G>C

1 paper

NM_000234.3

p.G403R

c.1207G>A

1 paper

NM_000234.3

p.G403V

c.1208G>T

1 paper

NM_000234.3

p.V369I

c.1105G>A

9 papers

NM_000234.3

p.R409H

c.1226G>A