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

8 papers

NM_014967.5

p.W707*

c.2121G>A

Surrounding Variants

9 papers

NM_014967.5

p.W707*

c.2120G>A

1 paper

NM_014967.5

p.R706G

c.2116C>G

3 papers

NM_014967.5

p.R706*

c.2116C>T

1 paper

NM_014967.5

p.R706_D709del4

c.2116_2126del12

6 papers

NM_014967.5

p.R710*

c.2128C>T

1 paper

NM_014967.5

p.R710L

c.2129G>T

1 paper

NM_014967.5

p.D702E

c.2106C>A

1 paper

NM_014967.5

p.D702E

c.2106C>G

1 paper

NM_014967.5

p.L713I

c.2137C>A

1 paper

NM_014967.5

p.Q717R

c.2150A>G

1 paper

NM_014967.5

p.Q696L

c.2087A>T

2 papers

NM_014967.5

p.Q696*

c.2086C>T