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.S707P

c.2119T>C

Surrounding Variants

7 papers

NM_000492.4

p.S707A

c.2119T>G

1 paper

NM_000492.4

p.S707Y

c.2120C>A

5 papers

NM_000492.4

p.S707C

c.2120C>G

1 paper

NM_000492.4

p.N706N

c.2118C>T

1 paper

NM_000492.4

p.S707F

c.2120C>T

19 papers

NM_000492.4

p.N706_K710delins

c.2117_2130delinsAGAAA

1 paper

NM_000492.4

p.N706_K710Fs

c.2117_2130delinsAGAAFs

1 paper

NM_000492.4

p.I708_R709delFs

c.2122_2125del4

1 paper

NM_000492.4

p.I708_R709insT

c.2122_2126ins3

1 paper

NM_000492.4

p.I708V

c.2122A>G

1 paper

NM_000492.4

p.N706_K710Fs

c.2117_2130delinsAFs

3 papers

NM_000492.4

p.I708T

c.2123T>C