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

2 papers

NM_000492.4

p.A96T

c.286G>A

Surrounding Variants

1 paper

NM_000492.4

p.A96S

c.286G>T

1 paper

NM_000492.4

p.A96fs

c.286_287fs

10 papers

NM_000492.4

p.A96E

c.287C>A

3 papers

NM_000492.4

p.A96V

c.287C>T

5 papers

NM_000492.4

p.K95R

c.284A>G

1 paper

NM_000492.4

p.A96A

c.288A>T

19 papers

NM_000492.4

p.K95Q

c.283A>C

7 papers

NM_000492.4

p.K95E

c.283A>G

3 papers

NM_000492.4

p.V97L

c.289G>C

3 papers

NM_000492.4

p.V97L

c.289G>T

2 papers

NM_000492.4

p.K95insFs

c.285dupA

1 paper

NM_000492.4

p.T94_K95insFs

c.282_283ins4