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.E831D

c.2493G>T

Surrounding Variants

1 paper

NM_000492.4

p.E831E

c.2493G>A

2 papers

NM_000492.4

p.E831D

c.2493G>C

1 paper

NM_000492.4

p.E831A

c.2492A>C

2 papers

NM_000492.4

p.E831delFs

c.2493delG

8 papers

NM_000492.4

p.C832S

c.2494T>A

1 paper

NM_000492.4

p.C832G

c.2494T>G

5 papers

NM_000492.4

p.C832Y

c.2495G>A

1 paper

NM_000492.4

p.E831K

c.2491G>A

8 papers

NM_000492.4

p.C832S

c.2495G>C

114 papers

NM_000492.4

p.E831*

c.2491G>T

2 papers

NM_000492.4

p.E831fs

c.2491_2492fs

3 papers

NM_000492.4

p.C832*

c.2496C>A