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.I506N

c.1517T>A

Surrounding Variants

33 papers

NM_000492.4

p.I506T

c.1517T>C

5 papers

NM_000492.4

p.I506S

c.1517T>G

15 papers

NM_000492.4

p.I506L

c.1516A>C

79 papers

NM_000492.4

p.I506V

c.1516A>G

13 papers

NM_000492.4

p.I506M

c.1518C>G

1 paper

NM_000492.4

p.I507_F508delFs

c.1519_1522del4

7 papers

NM_000492.4

p.I507_F508del2

c.1519_1523del6

1 paper

NM_000492.4

p.I507L

c.1519A>C

50 papers

NM_000492.4

p.I507V

c.1519A>G

3 papers

NM_000492.4

p.I507F

c.1519A>T

625 papers

NM_000492.4

p.I507_F508del1

c.1521_1523delCTT

1 paper

NM_000492.4

p.I507_F508delFs

c.1520_1523del4