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.W366*

c.1097G>A

Surrounding Variants

1 paper

NM_001130009.3

p.W366*

c.1098G>A

1 paper

NM_001130009.3

p.P367S

c.1099C>T

1 paper

NM_001130009.3

p.H369L

c.1106A>T

1 paper

NM_001130009.3

p.Y370D

c.1108T>G

1 paper

NM_001130009.3

p.Y370C

c.1109A>G

1 paper

NM_001130009.3

p.C372W

c.1116T>G

1 paper

NM_001130009.3

p.Q357_R358Splc

c.1072-2A>G

1 paper

NM_001130009.3

p.V377A

c.1130T>C

1 paper

NM_001130009.3

p.L379_E386delFs

c.1136_1157del22

1 paper

NM_001130009.3

p.L379F

c.1137G>C

1 paper

NM_001130009.3

p.L379F

c.1137G>T

1 paper

NM_001130009.3

p.M384V

c.1150A>G