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.E1401G

c.4202A>G

Surrounding Variants

2 papers

NM_000492.4

p.E1401A

c.4202A>C

1 paper

NM_000492.4

p.H1402_R1403delFs

c.4204_4207del4

1 paper

NM_000492.4

p.H1402delFs

c.4204delC

6 papers

NM_000492.4

p.E1401K

c.4201G>A

10 papers

NM_000492.4

p.E1401*

c.4201G>T

1 paper

NM_000492.4

p.H1402fs

c.4204_4205fs

16 papers

NM_000492.4

p.C1400*

c.4200T>A

5 papers

NM_000492.4

p.C1400S

c.4199G>C

1 paper

NM_000492.4

p.H1402H

c.4206C>T

5 papers

NM_000492.4

p.C1400S

c.4198T>A

1 paper

NM_000492.4

p.C1400fs

c.4198_4199fs

3 papers

NM_000492.4

p.R1403G

c.4207A>G