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.Y54*

c.162T>A

Surrounding Variants

1 paper

NM_014967.5

p.R53K

c.158G>A

1 paper

NM_014967.5

p.L56_N57insFs

c.168_169insAA

1 paper

NM_014967.5

p.R58R

c.174G>A

17 papers

NM_014967.5

p.M50R

c.149T>G

1 paper

NM_014967.5

p.D61V

c.182A>T

7 papers

NM_014967.5

p.C47*

c.141C>A

1 paper

NM_014967.5

p.C44F

c.131G>T

1 paper

NM_014967.5

p.A65_Q71delFs

c.195_211del17

1 paper

NM_014967.5

p.N66D

c.196A>G

1 paper

NM_014967.5

p.N36S

c.107A>G

1 paper

NM_014967.5

p.D73Y

c.217G>T

1 paper

NM_014967.5

p.P74_G75del2

c.220_224del6