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.K11_R12delFs

c.32_35del4

Surrounding Variants

1 paper

NM_014967.5

p.K10fs

c.28_29fs

1 paper

NM_014967.5

p.R12insFs

c.34dupA

2 papers

NM_014967.5

p.K10delFs

c.28delA

2 papers

NM_014967.5

p.K11_R12delFs

c.31_34del4

1 paper

NM_014967.5

p.P7P

c.21T>A

1 paper

NM_014967.5

p.P8insFs

c.23dupC

1 paper

NM_014967.5

p.E4D

c.12A>T

1 paper

NM_014967.5

p.E4G

c.11A>G

1 paper

NM_014967.5

p.S3insFs

c.7_8insCC

1 paper

NM_014967.5

p.M1K

c.2T>A

1 paper

NM_014967.5

p.M1insFs

c.2dupT

1 paper

NM_014967.5

p.M1V

c.1A>G