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.V1327delFs

c.3979delG

Surrounding Variants

2 papers

NM_000492.4

p.V1327L

c.3979G>C

2 papers

NM_000492.4

p.V1327L

c.3979G>T

1 paper

NM_000492.4

p.S1326P

c.3976T>C

3 papers

NM_000492.4

p.V1327G

c.3980T>G

1 paper

NM_000492.4

p.S1326fs

c.3976_3977fs

1 paper

NM_000492.4

p.R1325R

c.3975A>G

4 papers

NM_000492.4

p.S1326delFs

c.3976delT

1 paper

NM_000492.4

p.I1328L

c.3982A>C

1 paper

NM_000492.4

p.I1328L

c.3982A>T

2 papers

NM_000492.4

p.R1325K

c.3974G>A

1 paper

NM_000492.4

p.R1325fs

c.3973_3974fs

1 paper

NM_000492.4

p.I1328K

c.3983T>A