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.L137fs

c.409_410fs

Surrounding Variants

1 paper

NM_000492.4

p.L137fs

c.409_410fs

1 paper

NM_000492.4

p.L137F

c.409C>T

2 papers

NM_000492.4

p.L137_H139delFs

c.410_416del7

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

5 papers

NM_000492.4

p.L137H

c.410T>A

11 papers

NM_000492.4

p.L137P

c.410T>C

7 papers

NM_000492.4

p.L137R

c.410T>G

1 paper

NM_000492.4

p.L137_L138delFs

c.411_412delCC

33 papers

NM_000492.4

p.L138_H139ins0

c.413_415dupTAC

1 paper

NM_000492.4

p.L137L

c.411C>T