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

13 papers

NM_000492.4

p.F834L

c.2502T>G

Surrounding Variants

11 papers

NM_000492.4

p.F834L

c.2502T>A

2 papers

NM_000492.4

p.D835N

c.2503G>A

2 papers

NM_000492.4

p.D835Y

c.2503G>T

1 paper

NM_000492.4

p.D835del1

c.2503_2504delGAT

2 papers

NM_000492.4

p.D835A

c.2504A>C

1 paper

NM_000492.4

p.F834I

c.2500T>A

11 papers

NM_000492.4

p.F834L

c.2500T>C

1 paper

NM_000492.4

p.F834fs

c.2500_2501fs

6 papers

NM_000492.4

p.F833L

c.2499T>A

1 paper

NM_000492.4

p.D835D

c.2505T>C

6 papers

NM_000492.4

p.F833L

c.2499T>G

40 papers

NM_000492.4

p.D836Y

c.2506G>T