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.K522Q

c.1564A>C

Surrounding Variants

3 papers

NM_000492.4

p.K522E

c.1564A>G

1 paper

NM_000492.4

p.K522delins

c.1566delinsATAGAGGTCA

1 paper

NM_000492.4

p.K522R

c.1565A>G

3 papers

NM_000492.4

p.I521M

c.1563C>G

2 papers

NM_000492.4

p.K522_L526del5

c.1564_1577del15

1 paper

NM_000492.4

p.I521N

c.1562T>A

2 papers

NM_000492.4

p.I521S

c.1562T>G

3 papers

NM_000492.4

p.I521L

c.1561A>C

10 papers

NM_000492.4

p.I521F

c.1561A>T

1 paper

NM_000492.4

p.A523T

c.1567G>A

2 papers

NM_000492.4

p.A523S

c.1567G>T

2 papers

NM_000492.4

p.V520D

c.1559T>A