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.E56A

c.167A>C

Surrounding Variants

6 papers

NM_000492.4

p.E56G

c.167A>G

2 papers

NM_000492.4

p.E56D

c.168A>C

2 papers

NM_000492.4

p.E56D

c.168A>T

69 papers

NM_000492.4

p.E56K

c.166G>A

1 paper

NM_000492.4

p.E56Q

c.166G>C

3 papers

NM_000492.4

p.E56*

c.166G>T

4 papers

NM_000492.4

p.E56delFs

c.168delA

2 papers

NM_000492.4

p.R55S

c.165A>T

11 papers

NM_000492.4

p.W57R

c.169T>A

11 papers

NM_000492.4

p.W57R

c.169T>C

29 papers

NM_000492.4

p.W57G

c.169T>G

31 papers

NM_000492.4

p.W57*

c.170G>A