Varaico: Literature-Extracted Genetic Variants

GEN1

207 papers

RefSeq Summary

This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed...

Pfam Domains

XPG_Naa 1–96UCSCXPG N-terminal domain

XPG_Iaa 125–208UCSCXPG I-region

Chromo_2aa 398–458UCSCChromatin organization modifier domain 2

Gene Aliases

HGNC Name

GEN1 Holliday junction 5' flap endonuclease

HGNC Alias Symbol

FLJ40869

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130009.3

p.R603M

c.1808G>T

Surrounding Variants

1 paper

NM_001130009.3

p.H608Y

c.1822C>T

1 paper

NM_001130009.3

p.S598A

c.1792T>G

1 paper

NM_001130009.3

p.A581S

c.1741G>T

1 paper

NM_001130009.3

p.S578T

c.1732T>A

1 paper

NM_001130009.3

p.I577T

c.1730T>C

2 papers

NM_001130009.3

p.L632delins

c.1894_1895delinsGA

1 paper

NM_001130009.3

p.I643fs

c.1927_1928fs

2 papers

NM_001130009.3

p.K645_V646delFs

c.1933_1936del4

1 paper

NM_001130009.3

p.K644R

c.1931A>G

1 paper

NM_001130009.3

p.S562T

c.1684T>A

1 paper

NM_001130009.3

p.K645fs

c.1933_1934fs

1 paper

NM_001130009.3

p.S562_L563del2

c.1684_1688del6