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.F508delFs

c.1523delT

Surrounding Variants

1 paper

NM_000492.4

p.I507M

c.1521C>G

1 paper

NM_000492.4

p.I507I

c.1521C>T

4808 papers

NM_000492.4

p.F508del1

c.1522_1523delTTT

5 papers

NM_000492.4

p.I507N

c.1520T>A

2 papers

NM_000492.4

p.F508I

c.1522T>A

5 papers

NM_000492.4

p.F508L

c.1522T>C

2 papers

NM_000492.4

p.I507T

c.1520T>C

8 papers

NM_000492.4

p.F508V

c.1522T>G

1 paper

NM_000492.4

p.I507insFs

c.1520_1521insA

1 paper

NM_000492.4

p.F508fs

c.1522_1523fs

1 paper

NM_000492.4

p.F508_Y512del0

c.1523_1534del12

1 paper

NM_000492.4

p.F508fs

c.1522_1523fs