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

1 paper

NM_000492.4

p.K1200fs

c.3598_3599fs

Surrounding Variants

1 paper

NM_000492.4

p.K1200fs

c.3598_3599fs

1 paper

NM_000492.4

p.K1200Q

c.3598A>C

7 papers

NM_000492.4

p.K1200E

c.3598A>G

3 papers

NM_000492.4

p.K1200Fs

c.3598delinsTCTFs

2 papers

NM_000492.4

p.K1200Fs

c.3598_3599delinsGFs

2 papers

NM_000492.4

p.K1200Fs

c.3599_3600delinsGFs

5 papers

NM_000492.4

p.K1200delFs

c.3600delA

2 papers

NM_000492.4

p.K1199R

c.3596A>G

1 paper

NM_000492.4

p.D1201N

c.3601G>A

1 paper

NM_000492.4

p.D1201fs

c.3601_3602fs

4 papers

NM_000492.4

p.V1198V

c.3594G>T

11 papers

NM_000492.4

p.V1198M

c.3592G>A