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.K185R

c.554A>G

Surrounding Variants

1 paper

NM_014967.5

p.K185T

c.554A>C

3 papers

NM_014967.5

p.S186Y

c.557C>A

1 paper

NM_014967.5

p.T187delFs

c.560_561delCA

1 paper

NM_014967.5

p.T187fs

c.559_560fs

2 papers

NM_014967.5

p.K190N

c.570G>C

2 papers

NM_014967.5

p.K190N

c.570G>T

1 paper

NM_014967.5

p.L192R

c.575T>G

1 paper

NM_014967.5

p.D194H

c.580G>C

1 paper

NM_014967.5

p.E175*

c.523G>T

2 papers

NM_014967.5

p.D173A

c.518A>C

1 paper

NM_014967.5

p.D173delFs

c.518_519delAT

1 paper

NM_014967.5

p.S169*

c.506C>G