Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000492.4

p.K1302_N1303insFs

c.3906_3907insT

Surrounding Variants

1 paper

NM_000492.4

p.K1302_N1303insFs

c.3906_3907insG

1 paper

NM_000492.4

p.K1302N

c.3906A>C

1 paper

NM_000492.4

p.K1302N

c.3906A>T

1 paper

NM_000492.4

p.N1303fs

c.3907_3908fs

1 paper

NM_000492.4

p.N1303_L1304insACA

c.3907_3911ins9

203 papers

NM_000492.4

p.K1302insFs

c.3905_3906insT

18 papers

NM_000492.4

p.N1303H

c.3907A>C

2 papers

NM_000492.4

p.K1302R

c.3905A>G

6 papers

NM_000492.4

p.N1303fs

c.3907_3908fs

2 papers

NM_000492.4

p.N1303T

c.3908A>C

1 paper

NM_000492.4

p.K1302Q

c.3904A>C

15 papers

NM_000492.4

p.N1303I

c.3908A>T