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.Q398*

c.1192C>T

Surrounding Variants

1 paper

NM_001130009.3

p.Q396E

c.1186C>G

6 papers

NM_001130009.3

p.R401*

c.1201C>T

1 paper

NM_001130009.3

p.I385T

c.1154T>C

1 paper

NM_001130009.3

p.I385_E386delFs

c.1155_1158del4

1 paper

NM_001130009.3

p.M384V

c.1150A>G

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.L379_E386delFs

c.1136_1157del22

1 paper

NM_001130009.3

p.V377A

c.1130T>C

1 paper

NM_001130009.3

p.C372W

c.1116T>G

1 paper

NM_001130009.3

p.Y370C

c.1109A>G

1 paper

NM_001130009.3

p.Y370D

c.1108T>G