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.L383delFs

c.1147delC

Surrounding Variants

1 paper

NM_014967.5

p.K384K

c.1152A>G

1 paper

NM_014967.5

p.T385T

c.1155C>A

1 paper

NM_014967.5

p.V386V

c.1158A>G

1 paper

NM_014967.5

p.L387L

c.1161T>C

14 papers

NM_014967.5

p.R377W

c.1129C>T

1 paper

NM_014967.5

p.E388E

c.1164G>A

1 paper

NM_014967.5

p.N389N

c.1167T>C

1 paper

NM_014967.5

p.Y374*

c.1122C>A

1 paper

NM_014967.5

p.Y374*

c.1122C>G

2 papers

NM_014967.5

p.Y374F

c.1121A>T

1 paper

NM_014967.5

p.Y374insFs

c.1121dupA

1 paper

NM_014967.5

p.M393V

c.1177A>G