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.Q30P

c.89A>C

Surrounding Variants

1 paper

NM_000492.4

p.R31_L34del4

c.91_101del12

38 papers

NM_000492.4

p.Q30*

c.88C>T

1 paper

NM_000492.4

p.Q30Q

c.90G>A

1 paper

NM_000492.4

p.Q30H

c.90G>T

2 papers

NM_000492.4

p.R29R

c.87A>G

2 papers

NM_000492.4

p.R31S

c.91C>A

1 paper

NM_000492.4

p.R31G

c.91C>G

111 papers

NM_000492.4

p.R31C

c.91C>T

1 paper

NM_000492.4

p.R31delFs

c.92delG

1 paper

NM_000492.4

p.R31_E33delFs

c.92_98del7

28 papers

NM_000492.4

p.R29K

c.86G>A

17 papers

NM_000492.4

p.R31H

c.92G>A