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.V874L

c.2620G>T

Surrounding Variants

2 papers

NM_000492.4

p.V874M

c.2620G>A

1 paper

NM_000492.4

p.V874L

c.2620G>C

2 papers

NM_000492.4

p.E873_V874Splc

c.2620-1G>C

2 papers

NM_000492.4

p.E873_V874Splc

c.2620-1G>T

2 papers

NM_000492.4

p.V874_A875del2

c.2620_2624del6

1 paper

NM_000492.4

p.V874_N886delFs

c.2620_2657del38

3 papers

NM_000492.4

p.E873_V874Splc

c.2620-2A>G

7 papers

NM_000492.4

p.A875S

c.2623G>T

1 paper

NM_000492.4

p.A875V

c.2624C>T

1 paper

NM_000492.4

p.A876P

c.2626G>C

7 papers

NM_000492.4

p.E873_V874Splc

c.2620-6T>C

1 paper

NM_000492.4

p.A876V

c.2627C>T