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.G406A

c.1217G>C

Surrounding Variants

5 papers

NM_000492.4

p.G406E

c.1217G>A

1 paper

NM_000492.4

p.G406V

c.1217G>T

2 papers

NM_000492.4

p.G406R

c.1216G>A

2 papers

NM_000492.4

p.G406R

c.1216G>C

5 papers

NM_000492.4

p.E407K

c.1219G>A

1 paper

NM_000492.4

p.E407Q

c.1219G>C

6 papers

NM_000492.4

p.E407*

c.1219G>T

2 papers

NM_000492.4

p.E407delFs

c.1221delA

1 paper

NM_000492.4

p.E407fs

c.1219_1220fs

5 papers

NM_000492.4

p.E407delFs

c.1219delG

7 papers

NM_000492.4

p.E407V

c.1220A>T

20 papers

NM_000492.4

p.F405delFs

c.1213delT