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.W865C

c.2595G>T

Surrounding Variants

3 papers

NM_000492.4

p.W865C

c.2595G>C

8 papers

NM_000492.4

p.C866S

c.2596T>A

1 paper

NM_000492.4

p.C866R

c.2596T>C

21 papers

NM_000492.4

p.C866Y

c.2597G>A

8 papers

NM_000492.4

p.C866S

c.2597G>C

2 papers

NM_000492.4

p.C866W

c.2598C>G

2 papers

NM_000492.4

p.I864fs

c.2590_2591fs

5 papers

NM_000492.4

p.I864delFs

c.2591_2592delTT

1 paper

NM_000492.4

p.I864fs

c.2590_2591fs

6 papers

NM_000492.4

p.L867*

c.2600T>A

5 papers

NM_000492.4

p.L867*

c.2600T>G

5 papers

NM_000492.4

p.L867insFs

c.2601dupA