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

5 papers

NM_000492.4

p.F533L

c.1599T>G

Surrounding Variants

5 papers

NM_000492.4

p.F533L

c.1599T>A

22 papers

NM_000492.4

p.A534P

c.1600G>C

4 papers

NM_000492.4

p.A534S

c.1600G>T

16 papers

NM_000492.4

p.A534E

c.1601C>A

5 papers

NM_000492.4

p.F533L

c.1597T>C

2 papers

NM_000492.4

p.K532R

c.1595A>G

5 papers

NM_000492.4

p.E535K

c.1603G>A

2 papers

NM_000492.4

p.E535Q

c.1603G>C

1 paper

NM_000492.4

p.E535A

c.1604A>C

3 papers

NM_000492.4

p.K532E

c.1594A>G

1 paper

NM_000492.4

p.E535G

c.1604A>G

3 papers

NM_000492.4

p.E535D

c.1605G>C