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.F236L

c.708T>A

Surrounding Variants

1 paper

NM_000492.4

p.F236L

c.708T>G

25 papers

NM_000492.4

p.Q237E

c.709C>G

2 papers

NM_000492.4

p.Q237*

c.709C>T

2 papers

NM_000492.4

p.F236Y

c.707T>A

2 papers

NM_000492.4

p.F236S

c.707T>C

2 papers

NM_000492.4

p.F236C

c.707T>G

3 papers

NM_000492.4

p.Q237P

c.710A>C

2 papers

NM_000492.4

p.Q237R

c.710A>G

2 papers

NM_000492.4

p.Q237L

c.710A>T

1 paper

NM_000492.4

p.F236L

c.706T>C

9 papers

NM_000492.4

p.Q237H

c.711G>C

9 papers

NM_000492.4

p.Q237H

c.711G>T