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.E223K

c.667G>A

Surrounding Variants

1 paper

NM_014967.5

p.L221P

c.662T>C

1 paper

NM_014967.5

p.K222delFs

c.665delA

1 paper

NM_014967.5

p.F216I

c.646T>A

1 paper

NM_014967.5

p.V215G

c.644T>G

5 papers

NM_014967.5

p.G233E

c.698G>A

1 paper

NM_014967.5

p.I236_M237delFs

c.706_709del4

1 paper

NM_014967.5

p.Q211*

c.631C>T

1 paper

NM_014967.5

p.K235R

c.704A>G

1 paper

NM_014967.5

p.S210C

c.629C>G

4 papers

NM_014967.5

p.E240K

c.718G>A

1 paper

NM_014967.5

p.Q204R

c.611A>G

1 paper

NM_014967.5

p.Q242*

c.724C>T