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.S1435C

c.4303A>T

Surrounding Variants

1 paper

NM_000492.4

p.S1435fs

c.4303_4304fs

3 papers

NM_000492.4

p.S1435fs

c.4303_4304fs

1 paper

NM_000492.4

p.S1435insFs

c.4303_4304dupAG

1 paper

NM_000492.4

p.R1434insFs

c.4301dupG

2 papers

NM_000492.4

p.L1436F

c.4306C>T

1 paper

NM_000492.4

p.E1433D

c.4299G>C

1 paper

NM_000492.4

p.E1433D

c.4299G>T

2 papers

NM_000492.4

p.E1433G

c.4298A>G

1 paper

NM_000492.4

p.L1436L

c.4308C>T

10 papers

NM_000492.4

p.E1433K

c.4297G>A

3 papers

NM_000492.4

p.E1433*

c.4297G>T

8 papers

NM_000492.4

p.N1432K

c.4296C>A