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

8 papers

NM_000492.4

p.L138P

c.413T>C

Surrounding Variants

1 paper

NM_000492.4

p.L138Q

c.413T>A

1 paper

NM_000492.4

p.L138R

c.413T>G

3 papers

NM_000492.4

p.L138ins1

c.412_413insACT

1 paper

NM_000492.4

p.L138_H139insFs

c.414_415insTA

2 papers

NM_000492.4

p.H139insFs

c.415_416insA

33 papers

NM_000492.4

p.L138_H139ins0

c.413_415dupTAC

2 papers

NM_000492.4

p.H139insFs

c.415_416insTA

1 paper

NM_000492.4

p.H139D

c.415C>G

2 papers

NM_000492.4

p.H139Y

c.415C>T

1 paper

NM_000492.4

p.L137L

c.411C>T

5 papers

NM_000492.4

p.H139P

c.416A>C

30 papers

NM_000492.4

p.H139R

c.416A>G