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

2 papers

NM_000492.4

p.N722K

c.2166T>G

Surrounding Variants

2 papers

NM_000492.4

p.N722K

c.2166T>A

7 papers

NM_000492.4

p.G723D

c.2168G>A

6 papers

NM_000492.4

p.G723V

c.2168G>T

2 papers

NM_000492.4

p.I724L

c.2170A>C

2 papers

NM_000492.4

p.I724T

c.2171T>C

1 paper

NM_000492.4

p.I724S

c.2171T>G

1 paper

NM_000492.4

p.I724I

c.2172C>T

1 paper

NM_000492.4

p.Q720R

c.2159A>G

22 papers

NM_000492.4

p.E725K

c.2173G>A

25 papers

NM_000492.4

p.E725_E726insFs

c.2175_2176insA

2 papers

NM_000492.4

p.E725_E726insFs

c.2174_2177dup4

8 papers

NM_000492.4

p.Q720*

c.2158C>T