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.P740A

c.2218C>G

Surrounding Variants

1 paper

NM_000492.4

p.P740S

c.2218C>T

5 papers

NM_000492.4

p.P740L

c.2219C>T

1 paper

NM_000492.4

p.V739A

c.2216T>C

2 papers

NM_000492.4

p.V739G

c.2216T>G

3 papers

NM_000492.4

p.V739I

c.2215G>A

1 paper

NM_000492.4

p.D741N

c.2221G>A

5 papers

NM_000492.4

p.D741insFs

c.2221_2222insA

1 paper

NM_000492.4

p.V739insFs

c.2215_2216insA

3 papers

NM_000492.4

p.V739fs

c.2215_2216fs

6 papers

NM_000492.4

p.V739fs

c.2215_2216fs

19 papers

NM_000492.4

p.V739insFs

c.2215_2216insG

1 paper

NM_000492.4

p.L738F

c.2214A>C