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

1 paper

NM_000492.4

p.Q1439_I1441del3

c.4315_4322del9

Surrounding Variants

1 paper

NM_000492.4

p.Q1439*

c.4315C>T

2 papers

NM_000492.4

p.R1438Q

c.4313G>A

1 paper

NM_000492.4

p.R1438P

c.4313G>C

1 paper

NM_000492.4

p.R1438fs

c.4312_4313fs

11 papers

NM_000492.4

p.R1438W

c.4312C>T

1 paper

NM_000492.4

p.Q1439Q

c.4317A>G

1 paper

NM_000492.4

p.A1440G

c.4319C>G

1 paper

NM_000492.4

p.L1436L

c.4308C>T

1 paper

NM_000492.4

p.A1440A

c.4320C>T

2 papers

NM_000492.4

p.L1436F

c.4306C>T

3 papers

NM_000492.4

p.I1441T

c.4322T>C

1 paper

NM_000492.4

p.I1441M

c.4323C>G