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

4 papers

NM_000492.4

p.N900T

c.2699A>C

Surrounding Variants

8 papers

NM_000492.4

p.N900D

c.2698A>G

4 papers

NM_000492.4

p.N900K

c.2700T>A

4 papers

NM_000492.4

p.N900K

c.2700T>G

1 paper

NM_000492.4

p.R899K

c.2696G>A

2 papers

NM_000492.4

p.R899*

c.2695A>T

1 paper

NM_000492.4

p.R899delFs

c.2696delG

1 paper

NM_000492.4

p.N901K

c.2703C>A

1 paper

NM_000492.4

p.N901K

c.2703C>G

4 papers

NM_000492.4

p.S902R

c.2704A>C

3 papers

NM_000492.4

p.S902delFs

c.2705delG

3 papers

NM_000492.4

p.S898R

c.2694T>A

1 paper

NM_000492.4

p.S898S

c.2694T>C