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.T725insFs

c.2175dupT

Surrounding Variants

1 paper

NM_014967.5

p.K727R

c.2180A>G

1 paper

NM_014967.5

p.C728delFs

c.2184delC

1 paper

NM_014967.5

p.A734V

c.2201C>T

1 paper

NM_014967.5

p.P736L

c.2207C>T

1 paper

NM_014967.5

p.R743C

c.2227C>T

13 papers

NM_014967.5

p.R749*

c.2245C>T

1 paper

NM_014967.5

p.R749Q

c.2246G>A

2 papers

NM_014967.5

p.V751M

c.2251G>A

1 paper

NM_014967.5

p.R752H

c.2255G>A

6 papers

NM_014967.5

p.R754*

c.2260C>T

1 paper

NM_014967.5

p.E755V

c.2264A>T

1 paper

NM_014967.5

p.Q767*

c.2299C>T