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

5 papers

NM_000492.4

p.F316fs

c.946_947fs

Surrounding Variants

12 papers

NM_000492.4

p.F316L

c.946T>C

6 papers

NM_000492.4

p.F316fs

c.946_947fs

1 paper

NM_000492.4

p.F315F

c.945C>T

45 papers

NM_000492.4

p.F316delFs

c.948delT

3 papers

NM_000492.4

p.F316Y

c.947T>A

2 papers

NM_000492.4

p.F316C

c.947T>G

12 papers

NM_000492.4

p.F316L

c.948T>A

5 papers

NM_000492.4

p.F315S

c.944T>C

12 papers

NM_000492.4

p.F316L

c.948T>G

4 papers

NM_000492.4

p.F315C

c.944T>G

2 papers

NM_000492.4

p.V317del1

c.949_950delGTG

2 papers

NM_000492.4

p.V317_P324del8

c.949_971del24