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.K972_L973Splc

c.2916+2T>G

Surrounding Variants

1 paper

NM_014967.5

p.R969H

c.2906G>A

2 papers

NM_014967.5

p.R969L

c.2906G>T

24 papers

NM_014967.5

p.D960A

c.2879A>C

8 papers

NM_014967.5

p.D960N

c.2878G>A

1 paper

NM_014967.5

p.P959R

c.2876C>G

1 paper

NM_014967.5

p.P959L

c.2876C>T

1 paper

NM_014967.5

p.R955*

c.2863C>T

1 paper

NM_014967.5

p.C954insFs

c.2860dupT

10 papers

NM_014967.5

p.R952*

c.2854C>T

1 paper

NM_014967.5

p.A949V

c.2846C>T

1 paper

NM_014967.5

p.L940P

c.2819T>C

8 papers

NM_014967.5

p.G937D

c.2810G>A