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

5 papers

NM_000492.4

p.E504*

c.1510G>T

Surrounding Variants

11 papers

NM_000492.4

p.E504Q

c.1510G>C

1 paper

NM_000492.4

p.N505delFs

c.1514delA

2 papers

NM_000492.4

p.E504A

c.1511A>C

1 paper

NM_000492.4

p.E504D

c.1512A>C

2 papers

NM_000492.4

p.E504D

c.1512A>T

1 paper

NM_000492.4

p.I506_I507insFs

c.1516_1520dup5

3 papers

NM_000492.4

p.N505H

c.1513A>C

1 paper

NM_000492.4

p.K503Q

c.1507A>C

4 papers

NM_000492.4

p.K503E

c.1507A>G

1 paper

NM_000492.4

p.N505fs

c.1513_1514fs

1 paper

NM_000492.4

p.N505_I507delFs

c.1514_1521del8

1 paper

NM_000492.4

p.N505S

c.1514A>G