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.A474P

c.1420G>C

Surrounding Variants

1 paper

NM_014967.5

p.L477P

c.1430T>C

1 paper

NM_014967.5

p.L469insFs

c.1406dupT

1 paper

NM_014967.5

p.L480P

c.1439T>C

1 paper

NM_014967.5

p.E467K

c.1399G>A

1 paper

NM_014967.5

p.K482E

c.1444A>G

1 paper

NM_014967.5

p.S466delFs

c.1397_1398delCT

1 paper

NM_014967.5

p.Q492E

c.1474C>G

1 paper

NM_014967.5

p.Q492H

c.1476G>C

1 paper

NM_014967.5

p.Q492H

c.1476G>T

1 paper

NM_014967.5

p.K493E

c.1477A>G

1 paper

NM_014967.5

p.Q494E

c.1480C>G

1 paper

NM_014967.5

p.Q494*

c.1480C>T