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.V71_F72insFs

c.213_214insT

Surrounding Variants

1 paper

NM_001130009.3

p.K69T

c.206A>C

1 paper

NM_001130009.3

p.E75Q

c.223G>C

1 paper

NM_001130009.3

p.D67N

c.199G>A

1 paper

NM_001130009.3

p.G76G

c.228G>A

2 papers

NM_001130009.3

p.S61T

c.181T>A

1 paper

NM_001130009.3

p.S87G

c.259A>G

12 papers

NM_001130009.3

p.S92T

c.274T>A

1 paper

NM_001130009.3

p.S92P

c.274T>C

1 paper

NM_001130009.3

p.S92A

c.274T>G

1 paper

NM_001130009.3

p.Y94S

c.281A>C

1 paper

NM_001130009.3

p.S96delFs

c.287_288delCT

1 paper

NM_001130009.3

p.W101*

c.302G>A