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.G500A

c.1499G>C

Surrounding Variants

5 papers

NM_000492.4

p.G500D

c.1499G>A

1 paper

NM_000492.4

p.G500G

c.1500C>A

1 paper

NM_000492.4

p.G500S

c.1498G>A

1 paper

NM_000492.4

p.G500C

c.1498G>T

1 paper

NM_000492.4

p.G500fs

c.1498_1499fs

10 papers

NM_000492.4

p.T501A

c.1501A>G

3 papers

NM_000492.4

p.T501S

c.1501A>T

3 papers

NM_000492.4

p.G500delFs

c.1498delG

4 papers

NM_000492.4

p.P499H

c.1496C>A

3 papers

NM_000492.4

p.T501N

c.1502C>A

3 papers

NM_000492.4

p.T501S

c.1502C>G

1 paper

NM_000492.4

p.P499R

c.1496C>G