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.T943I

c.2828C>T

Surrounding Variants

1 paper

NM_000492.4

p.V944_I947ins1

c.2832_2840dup9

8 papers

NM_000492.4

p.V944A

c.2831T>C

1 paper

NM_000492.4

p.I942fs

c.2824_2825fs

1 paper

NM_000492.4

p.I942V

c.2824A>G

4 papers

NM_000492.4

p.I942delFs

c.2825delT

1 paper

NM_000492.4

p.I942fs

c.2824_2825fs

1 paper

NM_000492.4

p.V944V

c.2832G>A

202 papers

NM_000492.4

p.S945L

c.2834C>T

2 papers

NM_000492.4

p.S945delFs

c.2835delG

1 paper

NM_000492.4

p.S945_K946delFs

c.2835_2836delGA

5 papers

NM_000492.4

p.L941delFs

c.2822delT

1 paper

NM_000492.4

p.L941fs

c.2821_2822fs