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.C44F

c.131G>T

Surrounding Variants

7 papers

NM_014967.5

p.C47*

c.141C>A

17 papers

NM_014967.5

p.M50R

c.149T>G

1 paper

NM_014967.5

p.N36S

c.107A>G

1 paper

NM_014967.5

p.R53K

c.158G>A

1 paper

NM_014967.5

p.F34C

c.101T>G

1 paper

NM_014967.5

p.Y54*

c.162T>A

1 paper

NM_014967.5

p.S32W

c.95C>G

1 paper

NM_014967.5

p.L56_N57insFs

c.168_169insAA

2 papers

NM_014967.5

p.I31M

c.93T>G

1 paper

NM_014967.5

p.S32_N35del4

c.94_104del12

1 paper

NM_014967.5

p.I30V

c.88A>G

2 papers

NM_014967.5

p.I31_F34del4

c.91_101del12