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.S354G

c.1060A>G

Surrounding Variants

1 paper

NM_014967.5

p.I355F

c.1063A>T

1 paper

NM_014967.5

p.P356_L357del2

c.1066_1070del6

1 paper

NM_014967.5

p.G360delFs

c.1080delG

1 paper

NM_014967.5

p.S361fs

c.1081_1082fs

1 paper

NM_014967.5

p.P366R

c.1097C>G

1 paper

NM_014967.5

p.G367R

c.1099G>C

4 papers

NM_014967.5

p.Q368*

c.1102C>T

3 papers

NM_014967.5

p.P340S

c.1018C>T

1 paper

NM_014967.5

p.Y374insFs

c.1121dupA

2 papers

NM_014967.5

p.Y374F

c.1121A>T

1 paper

NM_014967.5

p.Y374*

c.1122C>A

1 paper

NM_014967.5

p.Y374*

c.1122C>G