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.R921_F922del2

c.2761_2765del6

Surrounding Variants

3 papers

NM_014967.5

p.R921C

c.2761C>T

5 papers

NM_014967.5

p.F922_T923del2

c.2764_2768del6

1 paper

NM_014967.5

p.S924F

c.2771C>T

1 paper

NM_014967.5

p.L925I

c.2773C>A

2 papers

NM_014967.5

p.L925fs

c.2773_2774fs

5 papers

NM_014967.5

p.L925delFs

c.2774_2775delTT

4 papers

NM_014967.5

p.L925fs

c.2773_2774fs

7 papers

NM_014967.5

p.Q929P

c.2786A>C

1 paper

NM_014967.5

p.Q909*

c.2725C>T

2 papers

NM_014967.5

p.T905M

c.2714C>T

1 paper

NM_014967.5

p.R899W

c.2695C>T

1 paper

NM_014967.5

p.P894S

c.2680C>T