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

5 papers

NM_000492.4

p.E826*

c.2476G>T

Surrounding Variants

22 papers

NM_000492.4

p.E826K

c.2476G>A

1 paper

NM_000492.4

p.E826A

c.2477A>C

1 paper

NM_000492.4

p.N825N

c.2475C>T

2 papers

NM_000492.4

p.E827del1

c.2479_2480delGAA

1 paper

NM_000492.4

p.E826D

c.2478A>C

2 papers

NM_000492.4

p.N825S

c.2474A>G

1 paper

NM_000492.4

p.E826D

c.2478A>T

1 paper

NM_000492.4

p.N825fs

c.2473_2474fs

1 paper

NM_000492.4

p.E827K

c.2479G>A

1 paper

NM_000492.4

p.E827Q

c.2479G>C

1 paper

NM_000492.4

p.E827fs

c.2479_2480fs

13 papers

NM_000492.4

p.E827*

c.2479G>T