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

25 papers

NM_000492.4

p.K830_E831Splc

c.2490+1G>A

Surrounding Variants

4 papers

NM_000492.4

p.K830_E831Splc

c.2490+1G>T

1 paper

NM_000492.4

p.K830N

c.2490G>C

1 paper

NM_000492.4

p.K830_E831insFs

c.2490_2491insA

1 paper

NM_000492.4

p.K830_E831insFs

c.2490_2491insT

1 paper

NM_000492.4

p.K830N

c.2490G>T

5 papers

NM_000492.4

p.K830_E831Splc

c.2490+2T>C

5 papers

NM_000492.4

p.K830*

c.2488A>T

1 paper

NM_000492.4

p.K830delFs

c.2489_2490delAG

1 paper

NM_000492.4

p.K830fs

c.2488_2489fs

1 paper

NM_000492.4

p.L829L

c.2487A>G

2 papers

NM_000492.4

p.K830_E831Splc

c.2490+5G>T

5 papers

NM_000492.4

p.K830insFs

c.2489dupA