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.F409F

c.1227T>C

Surrounding Variants

14 papers

NM_000492.4

p.F409L

c.1227T>A

14 papers

NM_000492.4

p.F409L

c.1227T>G

1 paper

NM_000492.4

p.E410K

c.1228G>A

2 papers

NM_000492.4

p.E410_N416del7

c.1228_1247del21

1 paper

NM_000492.4

p.E410G

c.1229A>G

2 papers

NM_000492.4

p.F409I

c.1225T>A

14 papers

NM_000492.4

p.F409L

c.1225T>C

1 paper

NM_000492.4

p.L408F

c.1224A>C

2 papers

NM_000492.4

p.A412_K413delFs

c.1234_1238del5

1 paper

NM_000492.4

p.K411_A412del2

c.1231_1235del6

5 papers

NM_000492.4

p.K411_A412insCTA

c.1231_1235ins9

11 papers

NM_000492.4

p.K411E

c.1231A>G