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

2 papers

NM_000492.4

p.S605C

c.1814C>G

Surrounding Variants

1 paper

NM_000492.4

p.S605Y

c.1814C>A

4 papers

NM_000492.4

p.S605F

c.1814C>T

4 papers

NM_000492.4

p.S605P

c.1813T>C

1 paper

NM_000492.4

p.S605A

c.1813T>G

5 papers

NM_000492.4

p.S605insFs

c.1813_1814insC

1 paper

NM_000492.4

p.M607delFs

c.1819delA

2 papers

NM_000492.4

p.T604N

c.1811C>A

5 papers

NM_000492.4

p.T604S

c.1811C>G

11 papers

NM_000492.4

p.T604I

c.1811C>T

7 papers

NM_000492.4

p.T604P

c.1810A>C

3 papers

NM_000492.4

p.T604A

c.1810A>G

4 papers

NM_000492.4

p.T604S

c.1810A>T