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.K411N

c.1233A>T

Surrounding Variants

3 papers

NM_000492.4

p.A412delFs

c.1234delG

1 paper

NM_000492.4

p.K411R

c.1232A>G

1 paper

NM_000492.4

p.K411Fs

c.1232_1233delinsTFs

1 paper

NM_000492.4

p.A412del1

c.1234_1235delGCA

3 papers

NM_000492.4

p.A412_K413insACT

c.1234_1238ins9

2 papers

NM_000492.4

p.A412S

c.1234G>T

4 papers

NM_000492.4

p.A412delFs

c.1235delC

1 paper

NM_000492.4

p.A412fs

c.1234_1235fs

11 papers

NM_000492.4

p.N415_N416delFs

c.1243_1247del5

5 papers

NM_000492.4

p.K411_A412insCTA

c.1231_1235ins9

11 papers

NM_000492.4

p.K411E

c.1231A>G

2 papers

NM_000492.4

p.A412V

c.1235C>T