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.R145L

c.434G>T

Surrounding Variants

6 papers

NM_014967.5

p.R145H

c.434G>A

1 paper

NM_014967.5

p.R145R

c.435T>G

3 papers

NM_014967.5

p.D140Y

c.418G>T

1 paper

NM_014967.5

p.C136delFs

c.406delT

1 paper

NM_014967.5

p.P127A

c.379C>G

1 paper

NM_014967.5

p.V164L

c.490G>C

1 paper

NM_014967.5

p.V164L

c.490G>T

1 paper

NM_014967.5

p.S126fs

c.376_377fs

2 papers

NM_014967.5

p.K124_I125insFs

c.372_375dup4

1 paper

NM_014967.5

p.K168insFs

c.504dupA

1 paper

NM_014967.5

p.Q123R

c.368A>G

1 paper

NM_014967.5

p.K167R

c.500A>G