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

3 papers

NM_000492.4

p.L34S

c.101T>C

Surrounding Variants

1 paper

NM_000492.4

p.L34delFs

c.102delG

2 papers

NM_000492.4

p.L34F

c.102G>T

1 paper

NM_000492.4

p.L34insFs

c.101dupT

1 paper

NM_000492.4

p.S35A

c.103T>G

1 paper

NM_000492.4

p.S35_D36ins5

c.103_107ins15

1 paper

NM_000492.4

p.E33A

c.98A>C

1 paper

NM_000492.4

p.S35*

c.104C>A

1 paper

NM_000492.4

p.S35_D36insFs

c.105_106insA

2 papers

NM_000492.4

p.S35L

c.104C>T

4 papers

NM_000492.4

p.E33K

c.97G>A

1 paper

NM_000492.4

p.E33insFs

c.98_99insA

1 paper

NM_000492.4

p.E33_L34insC

c.97_101ins3