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.S662P

c.1984T>C

Surrounding Variants

1 paper

NM_001130009.3

p.L661P

c.1982T>C

2 papers

NM_001130009.3

p.L661F

c.1981C>T

1 paper

NM_001130009.3

p.I664M

c.1992T>G

3 papers

NM_001130009.3

p.E657E

c.1971A>G

1 paper

NM_001130009.3

p.R677*

c.2029C>T

1 paper

NM_001130009.3

p.R677Q

c.2030G>A

1 paper

NM_001130009.3

p.K645fs

c.1933_1934fs

1 paper

NM_001130009.3

p.K644R

c.1931A>G

1 paper

NM_001130009.3

p.T680R

c.2039C>G

10 papers

NM_001130009.3

p.T680I

c.2039C>T

2 papers

NM_001130009.3

p.K645_V646delFs

c.1933_1936del4

1 paper

NM_001130009.3

p.I643fs

c.1927_1928fs