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.E1470*

c.4408G>T

Surrounding Variants

1 paper

NM_000492.4

p.E1470V

c.4409A>T

3 papers

NM_000492.4

p.E1470_T1471del2

c.4408_4412del6

1 paper

NM_000492.4

p.E1470D

c.4410G>C

1 paper

NM_000492.4

p.E1470D

c.4410G>T

3 papers

NM_000492.4

p.T1471A

c.4411A>G

2 papers

NM_000492.4

p.K1468N

c.4404A>C

2 papers

NM_000492.4

p.K1468N

c.4404A>T

1 paper

NM_000492.4

p.T1471I

c.4412C>T

1 paper

NM_000492.4

p.K1468R

c.4403A>G

2 papers

NM_000492.4

p.K1468*

c.4402A>T

1 paper

NM_000492.4

p.E1472K

c.4414G>A

7 papers

NM_000492.4

p.E1473*

c.4417G>T