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.A238D

c.713C>A

Surrounding Variants

2 papers

NM_000492.4

p.A238insFs

c.713_714insA

20 papers

NM_000492.4

p.A238V

c.713C>T

3 papers

NM_000492.4

p.A238delFs

c.714delT

4 papers

NM_000492.4

p.A238P

c.712G>C

2 papers

NM_000492.4

p.A238S

c.712G>T

6 papers

NM_000492.4

p.G239delFs

c.717delG

15 papers

NM_000492.4

p.G239R

c.715G>A

15 papers

NM_000492.4

p.G239R

c.715G>C

9 papers

NM_000492.4

p.Q237H

c.711G>C

9 papers

NM_000492.4

p.Q237H

c.711G>T

3 papers

NM_000492.4

p.Q237P

c.710A>C

2 papers

NM_000492.4

p.Q237R

c.710A>G