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

5 papers

NM_000492.4

p.N771S

c.2312A>G

Surrounding Variants

1 paper

NM_000492.4

p.N771I

c.2312A>T

2 papers

NM_000492.4

p.N771delFs

c.2312delA

68 papers

NM_000492.4

p.V769_L770insFs

c.2307_2308insA

6 papers

NM_000492.4

p.V769I

c.2305G>A

2 papers

NM_000492.4

p.H775delFs

c.2324_2325delAC

1 paper

NM_000492.4

p.T774P

c.2320A>C

1 paper

NM_000492.4

p.T774A

c.2320A>G

1 paper

NM_000492.4

p.T774K

c.2321C>A

2 papers

NM_000492.4

p.S768C

c.2303C>G

2 papers

NM_000492.4

p.T774R

c.2321C>G

1 paper

NM_000492.4

p.S768T

c.2302T>A

31 papers

NM_000492.4

p.S768A

c.2302T>G