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

3 papers

NM_000492.4

p.N48_L49delFs

c.142_145del4

Surrounding Variants

6 papers

NM_000492.4

p.D47A

c.140A>C

1 paper

NM_000492.4

p.D47V

c.140A>T

1 paper

NM_000492.4

p.D47E

c.141C>A

1 paper

NM_000492.4

p.D47E

c.141C>G

1 paper

NM_000492.4

p.D47Y

c.139G>T

5 papers

NM_000492.4

p.N48H

c.142A>C

1 paper

NM_000492.4

p.N48fs

c.142_143fs

2 papers

NM_000492.4

p.L49_S50delFs

c.147_150del4

1 paper

NM_000492.4

p.N48S

c.143A>G

1 paper

NM_000492.4

p.N48I

c.143A>T

3 papers

NM_000492.4

p.L49_S50del2

c.145_149del6

40 papers

NM_000492.4

p.A46D

c.137C>A