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.L868delFs

c.2603delT

Surrounding Variants

2 papers

NM_014967.5

p.L868fs

c.2602_2603fs

1 paper

NM_014967.5

p.F866S

c.2597T>C

1 paper

NM_014967.5

p.A865V

c.2594C>T

5 papers

NM_014967.5

p.C871R

c.2611T>C

1 paper

NM_014967.5

p.Q864_A865Splc

c.2593-1G>C

1 paper

NM_014967.5

p.T872fs

c.2614_2615fs

11 papers

NM_014967.5

p.T872delFs

c.2616delA

6 papers

NM_014967.5

p.D873fs

c.2617_2618fs

1 paper

NM_014967.5

p.P894S

c.2680C>T

1 paper

NM_014967.5

p.R899W

c.2695C>T

2 papers

NM_014967.5

p.T905M

c.2714C>T

1 paper

NM_014967.5

p.Q909*

c.2725C>T