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

1–12 of 355 variants

24 papers

NM_014967.5

p.D960A

c.2879A>C

20 papers

NM_014967.5

p.R507H

c.1520G>A

17 papers

NM_014967.5

p.M50R

c.149T>G

14 papers

NM_014967.5

p.R377W

c.1129C>T

13 papers

NM_014967.5

p.R749*

c.2245C>T

11 papers

NM_014967.5

p.T872delFs

c.2616delA

10 papers

NM_014967.5

p.R952*

c.2854C>T

9 papers

NM_014967.5

p.W707*

c.2120G>A

8 papers

NM_014967.5

p.W707*

c.2121G>A

8 papers

NM_014967.5

p.G937D

c.2810G>A

8 papers

NM_014967.5

p.D960N

c.2878G>A

7 papers

NM_014967.5

p.C47*

c.141C>A