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

1 paper

NM_000492.4

p.P140Q

c.419C>A

Surrounding Variants

3 papers

NM_000492.4

p.P140R

c.419C>G

7 papers

NM_000492.4

p.P140L

c.419C>T

1 paper

NM_000492.4

p.P140P

c.420A>G

2 papers

NM_000492.4

p.P140A

c.418C>G

15 papers

NM_000492.4

p.P140S

c.418C>T

2 papers

NM_000492.4

p.H139Q

c.417C>A

2 papers

NM_000492.4

p.H139Q

c.417C>G

1 paper

NM_000492.4

p.A141S

c.421G>T

1 paper

NM_000492.4

p.A141delFs

c.422_423delCC

5 papers

NM_000492.4

p.H139P

c.416A>C

30 papers

NM_000492.4

p.H139R

c.416A>G

36 papers

NM_000492.4

p.H139L

c.416A>T