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.V87delFs

c.261delA

Surrounding Variants

2 papers

NM_014967.5

p.M86delFs

c.256_257delAT

1 paper

NM_014967.5

p.N83_D88del6

c.247_263del18

2 papers

NM_014967.5

p.T93I

c.278C>T

1 paper

NM_014967.5

p.V97delFs

c.289delG

1 paper

NM_014967.5

p.V77I

c.229G>A

1 paper

NM_014967.5

p.P74_G75del2

c.220_224del6

1 paper

NM_014967.5

p.D73Y

c.217G>T

1 paper

NM_014967.5

p.P104_K106delFs

c.312_318del7

1 paper

NM_014967.5

p.P105fs

c.313_314fs

1 paper

NM_014967.5

p.N66D

c.196A>G

2 papers

NM_014967.5

p.L109S

c.326T>C

1 paper

NM_014967.5

p.A65_Q71delFs

c.195_211del17