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.T788A

c.2362A>G

Surrounding Variants

1 paper

NM_000492.4

p.T788R

c.2363C>G

1 paper

NM_000492.4

p.T788I

c.2363C>T

2 papers

NM_000492.4

p.T787K

c.2360C>A

1 paper

NM_000492.4

p.T787A

c.2359A>G

1 paper

NM_000492.4

p.A789S

c.2365G>T

1 paper

NM_000492.4

p.A789G

c.2366C>G

3 papers

NM_000492.4

p.K786N

c.2358G>C

3 papers

NM_000492.4

p.K786N

c.2358G>T

6 papers

NM_000492.4

p.S790A

c.2368T>G

3 papers

NM_000492.4

p.S790F

c.2369C>T

12 papers

NM_000492.4

p.R785Q

c.2354G>A

1 paper

NM_000492.4

p.R785P

c.2354G>C