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

7 papers

NM_000492.4

p.F337Y

c.1010T>A

Surrounding Variants

18 papers

NM_000492.4

p.F337S

c.1010T>C

21 papers

NM_000492.4

p.F337C

c.1010T>G

7 papers

NM_000492.4

p.F337L

c.1011C>A

7 papers

NM_000492.4

p.F337L

c.1011C>G

1 paper

NM_000492.4

p.F337I

c.1009T>A

7 papers

NM_000492.4

p.F337L

c.1009T>C

3 papers

NM_000492.4

p.F337V

c.1009T>G

1 paper

NM_000492.4

p.I336_F337insFs

c.1008_1009insT

42 papers

NM_000492.4

p.T338A

c.1012A>G

6 papers

NM_000492.4

p.T338S

c.1012A>T

4 papers

NM_000492.4

p.T338N

c.1013C>A

6 papers

NM_000492.4

p.T338S

c.1013C>G