Varaico: Literature-Extracted Genetic Variants

FAN1

234 papers

RefSeq Summary

This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephr...

Pfam Domains

FAN1_HTHaa 373–457UCSCFAN1, HTH domain

Fan1_SAPaa 465–528UCSCFanconi-associated nuclease 1, SAP subdomain

FAN1_TPRaa 601–754UCSCFanconi-associated nuclease 1, TPR domain

VRR_NUCaa 893–1008UCSCVRR-NUC domain

Gene Aliases

HGNC Name

FANCD2 and FANCI associated nuclease 1

HGNC Previous Symbols

KIAA1018; MTMR15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014967.5

p.A261A

c.783G>A

Surrounding Variants

1 paper

NM_014967.5

p.A261V

c.782C>T

2 papers

NM_014967.5

p.G256_F257del2

c.766_770del6

1 paper

NM_014967.5

p.D268insFs

c.803_804ins26

1 paper

NM_014967.5

p.L253I

c.757C>A

1 paper

NM_014967.5

p.E247K

c.739G>A

1 paper

NM_014967.5

p.S277C

c.830C>G

2 papers

NM_014967.5

p.R246W

c.736C>T

1 paper

NM_014967.5

p.R246_E247Fs

c.736_741delinsTGTGTGTGAAGFs

1 paper

NM_014967.5

p.S279A

c.835T>G

1 paper

NM_014967.5

p.E280delFs

c.840delA

1 paper

NM_014967.5

p.Q242*

c.724C>T

4 papers

NM_014967.5

p.E240K

c.718G>A