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

11 papers

NM_000492.4

p.S434P

c.1300T>C

Surrounding Variants

1 paper

NM_000492.4

p.S434A

c.1300T>G

1 paper

NM_000492.4

p.S434fs

c.1300_1301fs

19 papers

NM_000492.4

p.S434*

c.1301C>A

17 papers

NM_000492.4

p.F433L

c.1299C>A

18 papers

NM_000492.4

p.S434*

c.1301C>G

17 papers

NM_000492.4

p.F433L

c.1299C>G

1 paper

NM_000492.4

p.S434L

c.1301C>T

2 papers

NM_000492.4

p.S434delFs

c.1302delA

1 paper

NM_000492.4

p.S434S

c.1302A>G

1 paper

NM_000492.4

p.F433C

c.1298T>G

1 paper

NM_000492.4

p.L435ins1

c.1303_1304insACA

4 papers

NM_000492.4

p.L435V

c.1303C>G