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

5 papers

NM_000492.4

p.R516_Y517insFs

c.1548_1549insC

Surrounding Variants

3 papers

NM_000492.4

p.R516S

c.1548A>C

3 papers

NM_000492.4

p.R516S

c.1548A>T

21 papers

NM_000492.4

p.R516K

c.1547G>A

1 paper

NM_000492.4

p.R516T

c.1547G>C

2 papers

NM_000492.4

p.R516I

c.1547G>T

1 paper

NM_000492.4

p.Y517N

c.1549T>A

4 papers

NM_000492.4

p.Y517H

c.1549T>C

2 papers

NM_000492.4

p.Y517S

c.1550A>C

10 papers

NM_000492.4

p.Y517C

c.1550A>G

8 papers

NM_000492.4

p.R516G

c.1546A>G

1 paper

NM_000492.4

p.R516fs

c.1546_1547fs

2 papers

NM_000492.4

p.R516Fs

c.1546_1548delinsTFs