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

3 papers

NM_000492.4

p.E608G

c.1823A>G

Surrounding Variants

3 papers

NM_000492.4

p.E608K

c.1822G>A

10 papers

NM_000492.4

p.E608delFs

c.1824delA

2 papers

NM_000492.4

p.H609Y

c.1825C>T

2 papers

NM_000492.4

p.M607I

c.1821G>A

2 papers

NM_000492.4

p.M607I

c.1821G>C

2 papers

NM_000492.4

p.M607I

c.1821G>T

39 papers

NM_000492.4

p.H609R

c.1826A>G

6 papers

NM_000492.4

p.H609L

c.1826A>T

1 paper

NM_000492.4

p.M607fs

c.1819_1820fs

1 paper

NM_000492.4

p.M607delFs

c.1820delT

5 papers

NM_000492.4

p.L610I

c.1828T>A

13 papers

NM_000492.4

p.L610S

c.1829T>C