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.L214L

c.640C>T

Surrounding Variants

5 papers

NM_000492.4

p.L214V

c.640C>G

1 paper

NM_000492.4

p.L214P

c.641T>C

1 paper

NM_000492.4

p.L214_I215insFs

c.642_643insT

1 paper

NM_000492.4

p.L214L

c.642A>C

8 papers

NM_000492.4

p.G213E

c.638G>A

1 paper

NM_000492.4

p.G213A

c.638G>C

4 papers

NM_000492.4

p.G213V

c.638G>T

1 paper

NM_000492.4

p.I215fs

c.643_644fs

1 paper

NM_000492.4

p.I215insFs

c.643_644insT

2 papers

NM_000492.4

p.M212I

c.636G>A

1 paper

NM_000492.4

p.M212I

c.636G>C

1 paper

NM_000492.4

p.M212I

c.636G>T