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.E746_L749Fs

c.2236_2246delinsAAAAATCFs

Surrounding Variants

1 paper

NM_000492.4

p.E746G

c.2237A>G

2 papers

NM_000492.4

p.E746_L749delFs

c.2236_2246del11

2 papers

NM_000492.4

p.E746D

c.2238G>C

2 papers

NM_000492.4

p.E746D

c.2238G>T

5 papers

NM_000492.4

p.A747_L749delFs

c.2240_2247del8

7 papers

NM_000492.4

p.G745*

c.2233G>T

2 papers

NM_000492.4

p.A747E

c.2240C>A

3 papers

NM_000492.4

p.A747V

c.2240C>T

2 papers

NM_000492.4

p.Q744P

c.2231A>C

4 papers

NM_000492.4

p.Q744R

c.2231A>G

1 paper

NM_000492.4

p.A747A

c.2241G>A

2 papers

NM_000492.4

p.I748fs

c.2242_2243fs