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

4 papers

NM_000492.4

p.C647S

c.1939T>A

Surrounding Variants

4 papers

NM_000492.4

p.C647S

c.1940G>C

1 paper

NM_000492.4

p.C647F

c.1940G>T

3 papers

NM_000492.4

p.D648N

c.1942G>A

2 papers

NM_000492.4

p.G646R

c.1936G>A

2 papers

NM_000492.4

p.G646R

c.1936G>C

1 paper

NM_000492.4

p.D648fs

c.1942_1943fs

4 papers

NM_000492.4

p.G646*

c.1936G>T

7 papers

NM_000492.4

p.D648delFs

c.1943delA

2 papers

NM_000492.4

p.D648fs

c.1942_1943fs

19 papers

NM_000492.4

p.D648V

c.1943A>T

2 papers

NM_000492.4

p.M645I

c.1935G>A

2 papers

NM_000492.4

p.M645I

c.1935G>C