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

6 papers

NM_000492.4

p.F311C

c.932T>G

Surrounding Variants

1 paper

NM_000492.4

p.F311S

c.932T>C

53 papers

NM_000492.4

p.F311L

c.933C>A

54 papers

NM_000492.4

p.F311L

c.933C>G

53 papers

NM_000492.4

p.F311L

c.931T>C

4 papers

NM_000492.4

p.F310L

c.930C>A

4 papers

NM_000492.4

p.F310L

c.930C>G

1 paper

NM_000492.4

p.F310F

c.930C>T

1 paper

NM_000492.4

p.F312L

c.934T>C

3 papers

NM_000492.4

p.S313delFs

c.937_938delTC

3 papers

NM_000492.4

p.F310C

c.929T>G

1 paper

NM_000492.4

p.F312C

c.935T>G

1 paper

NM_000492.4

p.F310delFs

c.930delC