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

4 papers

NM_000492.4

p.I807_Y808insFs

c.2421_2422dupAT

Surrounding Variants

1 paper

NM_000492.4

p.D806A

c.2417A>C

19 papers

NM_000492.4

p.D806G

c.2417A>G

2 papers

NM_000492.4

p.D806E

c.2418T>A

2 papers

NM_000492.4

p.D806E

c.2418T>G

2 papers

NM_000492.4

p.I807V

c.2419A>G

1 paper

NM_000492.4

p.L805_D806del2

c.2413_2417del6

2 papers

NM_000492.4

p.I807T

c.2420T>C

1 paper

NM_000492.4

p.Y808_R810del3

c.2422_2429del9

1 paper

NM_000492.4

p.E804A

c.2411A>C

62 papers

NM_000492.4

p.I807M

c.2421A>G

3 papers

NM_000492.4

p.E804V

c.2411A>T

5 papers

NM_000492.4

p.E804K

c.2410G>A