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.N445insFs

c.1333_1334ins4

Surrounding Variants

1 paper

NM_000492.4

p.N445delFs

c.1335delT

2 papers

NM_000492.4

p.I444M

c.1332T>G

1 paper

NM_000492.4

p.N445delFs

c.1333delA

8 papers

NM_000492.4

p.I444T

c.1331T>C

10 papers

NM_000492.4

p.I444S

c.1331T>G

1 paper

NM_000492.4

p.F446_E449del4

c.1336_1346del12

1 paper

NM_000492.4

p.I444fs

c.1330_1331fs

4 papers

NM_000492.4

p.I444F

c.1330A>T

4 papers

NM_000492.4

p.I444fs

c.1330_1331fs

1 paper

NM_000492.4

p.F446L

c.1336T>C

1 paper

NM_000492.4

p.D443D

c.1329T>C

1 paper

NM_000492.4

p.F446C

c.1337T>G