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.L136M

c.406C>A

Surrounding Variants

1 paper

NM_000492.4

p.L136insFs

c.406_407insA

2 papers

NM_000492.4

p.L136L

c.406C>T

4 papers

NM_000492.4

p.L136fs

c.406_407fs

4 papers

NM_000492.4

p.L136P

c.407T>C

5 papers

NM_000492.4

p.L136R

c.407T>G

1 paper

NM_000492.4

p.L136delins

c.407_408delinsCT

2 papers

NM_000492.4

p.T135I

c.404C>T

2 papers

NM_000492.4

p.L136L

c.408G>C

6 papers

NM_000492.4

p.L137delFs

c.409delC

4 papers

NM_000492.4

p.L137_L138delFs

c.409_412del4

3 papers

NM_000492.4

p.T135A

c.403A>G

6 papers

NM_000492.4

p.T135S

c.403A>T