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.F650F

c.1950C>T

Surrounding Variants

8 papers

NM_000492.4

p.F650L

c.1950C>A

9 papers

NM_000492.4

p.F650L

c.1950C>G

12 papers

NM_000492.4

p.D651N

c.1951G>A

2 papers

NM_000492.4

p.D651H

c.1951G>C

8 papers

NM_000492.4

p.F650L

c.1948T>C

1 paper

NM_000492.4

p.Q652K

c.1954C>A

1 paper

NM_000492.4

p.Q652E

c.1954C>G

5 papers

NM_000492.4

p.Q652*

c.1954C>T

3 papers

NM_000492.4

p.F650_N659del10

c.1948_1976del30

4 papers

NM_000492.4

p.Q652P

c.1955A>C

19 papers

NM_000492.4

p.D648V

c.1943A>T

1 paper

NM_000492.4

p.F653I

c.1957T>A