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

1 paper

NM_000492.4

p.N778delFs

c.2333delA

Surrounding Variants

2 papers

NM_000492.4

p.Q779delFs

c.2335delC

2 papers

NM_000492.4

p.V777fs

c.2329_2330fs

4 papers

NM_000492.4

p.S776*

c.2327C>A

4 papers

NM_000492.4

p.S776insFs

c.2328dupA

4 papers

NM_000492.4

p.S776*

c.2327C>G

7 papers

NM_000492.4

p.Q779*

c.2335C>T

5 papers

NM_000492.4

p.S776L

c.2327C>T

3 papers

NM_000492.4

p.Q779delFs

c.2337delA

1 paper

NM_000492.4

p.G780delFs

c.2339delG

1 paper

NM_000492.4

p.H775R

c.2324A>G

4 papers

NM_000492.4

p.H775Y

c.2323C>T

2 papers

NM_000492.4

p.G780_N782delFs

c.2340_2346del7