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.I336T

c.1007T>C

Surrounding Variants

87 papers

NM_000492.4

p.I336K

c.1007T>A

1 paper

NM_000492.4

p.I336delFs

c.1008delA

1 paper

NM_000492.4

p.I336_C343delFs

c.1008_1029del22

7 papers

NM_000492.4

p.I336insFs

c.1006_1007insG

2 papers

NM_000492.4

p.I336fs

c.1006_1007fs

1 paper

NM_000492.4

p.I336_F337insFs

c.1008_1009insT

4 papers

NM_000492.4

p.I336L

c.1006A>C

1 paper

NM_000492.4

p.I336V

c.1006A>G

4 papers

NM_000492.4

p.I336L

c.1006A>T

4 papers

NM_000492.4

p.I336fs

c.1006_1007fs

1 paper

NM_000492.4

p.F337I

c.1009T>A

7 papers

NM_000492.4

p.F337L

c.1009T>C