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.I40_D44del5

c.118_131del15

Surrounding Variants

5 papers

NM_000492.4

p.Q39H

c.117A>C

5 papers

NM_000492.4

p.Q39H

c.117A>T

1 paper

NM_000492.4

p.I40fs

c.118_119fs

3 papers

NM_000492.4

p.Q39P

c.116A>C

1 paper

NM_000492.4

p.I40V

c.118A>G

2 papers

NM_000492.4

p.Q39K

c.115C>A

66 papers

NM_000492.4

p.Q39*

c.115C>T

1 paper

NM_000492.4

p.I40delFs

c.118delA

1 paper

NM_000492.4

p.I40N

c.119T>A

6 papers

NM_000492.4

p.Y38*

c.114C>A

4 papers

NM_000492.4

p.Y38*

c.114C>G

1 paper

NM_000492.4

p.Y38Y

c.114C>T