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

5 papers

NM_014967.5

p.A412Splc

c.1234+2T>A

Surrounding Variants

1 paper

NM_014967.5

p.Q409H

c.1227G>C

1 paper

NM_014967.5

p.Q409H

c.1227G>T

1 paper

NM_014967.5

p.Q409E

c.1225C>G

1 paper

NM_014967.5

p.Q409*

c.1225C>T

1 paper

NM_014967.5

p.K406T

c.1217A>C

1 paper

NM_014967.5

p.K406E

c.1216A>G

1 paper

NM_014967.5

p.K406_F407delFs

c.1217_1221del5

1 paper

NM_014967.5

p.I403delFs

c.1209delT

1 paper

NM_014967.5

p.K401E

c.1201A>G

3 papers

NM_014967.5

p.L395P

c.1184T>C

1 paper

NM_014967.5

p.M393V

c.1177A>G

1 paper

NM_014967.5

p.N389N

c.1167T>C