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

4 papers

NM_001130009.3

p.T817A

c.2449A>G

Surrounding Variants

4 papers

NM_001130009.3

p.Y815Y

c.2445C>T

1 paper

NM_001130009.3

p.K812R

c.2435A>G

1 paper

NM_001130009.3

p.G811G

c.2433G>T

1 paper

NM_001130009.3

p.S824P

c.2470T>C

1 paper

NM_001130009.3

p.Q825R

c.2474A>G

1 paper

NM_001130009.3

p.K833fs

c.2497_2498fs

1 paper

NM_001130009.3

p.E834fs

c.2500_2501fs

1 paper

NM_001130009.3

p.N838_L840del3

c.2512_2519del9

1 paper

NM_001130009.3

p.N838fs

c.2512_2513fs

1 paper

NM_001130009.3

p.N838_L840delFs

c.2514_2518del5

10 papers

NM_001130009.3

p.K839_L840delFs

c.2515_2519del5

1 paper

NM_001130009.3

p.K839_L840del2

c.2515_2519del6