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

4 papers

NM_000492.4

p.S466T

c.1396T>A

Surrounding Variants

1 paper

NM_000492.4

p.S466A

c.1396T>G

122 papers

NM_000492.4

p.S466*

c.1397C>A

125 papers

NM_000492.4

p.S466*

c.1397C>G

12 papers

NM_000492.4

p.S466L

c.1397C>T

13 papers

NM_000492.4

p.T465N

c.1394C>A

1 paper

NM_000492.4

p.T465S

c.1394C>G

9 papers

NM_000492.4

p.T465I

c.1394C>T

1 paper

NM_000492.4

p.T465S

c.1393A>T

1 paper

NM_000492.4

p.T465delFs

c.1394delC

69 papers

NM_000492.4

p.L467F

c.1399C>T

53 papers

NM_000492.4

p.K464_T465Splc

c.1393-1G>A

2 papers

NM_000492.4

p.K464_T465Splc

c.1393-1G>C