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.M961V

c.2881A>G

Surrounding Variants

2 papers

NM_000492.4

p.M961L

c.2881A>C

2 papers

NM_000492.4

p.M961L

c.2881A>T

1 paper

NM_000492.4

p.M961K

c.2882T>A

2 papers

NM_000492.4

p.M961T

c.2882T>C

3 papers

NM_000492.4

p.M961_S962insFs

c.2883_2886dup4

1 paper

NM_000492.4

p.M961delFs

c.2881delA

2 papers

NM_000492.4

p.P960delFs

c.2880delT

1 paper

NM_000492.4

p.M961I

c.2883G>T

7 papers

NM_000492.4

p.P960_M961insA

c.2878_2882ins3

1 paper

NM_000492.4

p.P960S

c.2878C>T

2 papers

NM_000492.4

p.P960_M961delFs

c.2879_2882del4

2 papers

NM_000492.4

p.P960delFs

c.2879delC