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

1–12 of 238 variants

12 papers

NM_001130009.3

p.S92T

c.274T>A

10 papers

NM_001130009.3

p.S310N

c.929G>A

10 papers

NM_001130009.3

p.T680I

c.2039C>T

10 papers

NM_001130009.3

p.K839_L840delFs

c.2515_2519del5

9 papers

NM_001130009.3

p.N143S

c.428A>G

7 papers

NM_001130009.3

p.K839fs

c.2515_2516fs

7 papers

NM_001130009.3

p.K882E

c.2644A>G

6 papers

NM_001130009.3

p.R401*

c.1201C>T

5 papers

NM_001130009.3

p.R302H

c.905G>A

5 papers

NM_001130009.3

p.S873R

c.2617A>C

5 papers

NM_001130009.3

p.S873R

c.2619T>A

5 papers

NM_001130009.3

p.S873R

c.2619T>G