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

51 papers

NM_000492.4

p.V510D

c.1529T>A

Surrounding Variants

31 papers

NM_000492.4

p.V510A

c.1529T>C

2 papers

NM_000492.4

p.V510G

c.1529T>G

6 papers

NM_000492.4

p.V510I

c.1528G>A

2 papers

NM_000492.4

p.V510L

c.1528G>C

3 papers

NM_000492.4

p.V510F

c.1528G>T

1 paper

NM_000492.4

p.S511delFs

c.1531delT

2 papers

NM_000492.4

p.V510_S511delFs

c.1530_1531delTT

1 paper

NM_000492.4

p.V510fs

c.1528_1529fs

1 paper

NM_000492.4

p.S511T

c.1531T>A

1 paper

NM_000492.4

p.S511P

c.1531T>C

5 papers

NM_000492.4

p.S511A

c.1531T>G

1 paper

NM_000492.4

p.S511fs

c.1531_1532fs