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.L1414_V1415Splc

c.4243-2A>G

Surrounding Variants

1 paper

NM_000492.4

p.L1414_V1415Splc

c.4243-2A>C

4 papers

NM_000492.4

p.L1414_V1415Splc

c.4243-1G>A

2 papers

NM_000492.4

p.L1414_V1415Splc

c.4243-1G>T

4 papers

NM_000492.4

p.L1414_V1415Splc

c.4243-3T>A

1 paper

NM_000492.4

p.L1414_V1415Splc

c.4243-3T>C

2 papers

NM_000492.4

p.V1415insFs

c.4243_4244ins4

3 papers

NM_000492.4

p.V1415F

c.4243G>T

1 paper

NM_000492.4

p.V1415fs

c.4243_4244fs

3 papers

NM_000492.4

p.L1414_V1415Splc

c.4243-5C>T

1 paper

NM_000492.4

p.V1415D

c.4244T>A

1 paper

NM_000492.4

p.V1415A

c.4244T>C

1 paper

NM_000492.4

p.L1414_V1415Splc

c.4243-6C>T