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

3 papers

NM_000492.4

p.G551V

c.1652G>T

Surrounding Variants

2877 papers

NM_000492.4

p.G551D

c.1652G>A

8 papers

NM_000492.4

p.G551A

c.1652G>C

3 papers

NM_000492.4

p.G551insFs

c.1652_1653ins5

3 papers

NM_000492.4

p.G551_Q552del1

c.1653_1655delTCA

267 papers

NM_000492.4

p.G551S

c.1651G>A

5 papers

NM_000492.4

p.G551R

c.1651G>C

1 paper

NM_000492.4

p.G551fs

c.1651_1652fs

2 papers

NM_000492.4

p.G551C

c.1651G>T

1 paper

NM_000492.4

p.G551fs

c.1651_1652fs

2 papers

NM_000492.4

p.G551_Q552del1

c.1652_1654delGTC

3 papers

NM_000492.4

p.G551_Q552delFs

c.1652_1655del4

2 papers

NM_000492.4

p.G551delFs

c.1652delG