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.I371M

c.1113A>G

Surrounding Variants

1 paper

NM_000492.4

p.I371I

c.1113A>C

1 paper

NM_000492.4

p.I371I

c.1113A>T

1 paper

NM_000492.4

p.Q372delFs

c.1114delC

6 papers

NM_000492.4

p.Q372*

c.1114C>T

2 papers

NM_000492.4

p.Q372delFs

c.1115delA

2 papers

NM_000492.4

p.I371T

c.1112T>C

5 papers

NM_000492.4

p.Q372R

c.1115A>G

3 papers

NM_000492.4

p.Q372L

c.1115A>T

7 papers

NM_000492.4

p.I371delFs

c.1112delT

1 paper

NM_000492.4

p.K370N

c.1110A>C

1 paper

NM_000492.4

p.K370K

c.1110A>G

1 paper

NM_000492.4

p.K370N

c.1110A>T