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

2 papers

NM_014967.5

p.Q506E

c.1516C>G

Surrounding Variants

2 papers

NM_014967.5

p.Q506P

c.1517A>C

1 paper

NM_014967.5

p.K505I

c.1514A>T

2 papers

NM_014967.5

p.R507G

c.1519C>G

1 paper

NM_014967.5

p.R507C

c.1519C>T

20 papers

NM_014967.5

p.R507H

c.1520G>A

3 papers

NM_014967.5

p.R507P

c.1520G>C

2 papers

NM_014967.5

p.S508A

c.1522T>G

1 paper

NM_014967.5

p.V509L

c.1525G>C

2 papers

NM_014967.5

p.V509A

c.1526T>C

1 paper

NM_014967.5

p.D498N

c.1492G>A

1 paper

NM_014967.5

p.Q495E

c.1483C>G

1 paper

NM_014967.5

p.G518_I519del2

c.1552_1556del6