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.L49P

c.146T>C

Surrounding Variants

1 paper

NM_000492.4

p.L49R

c.146T>G

7 papers

NM_000492.4

p.L49L

c.147A>G

1 paper

NM_000492.4

p.L49I

c.145C>A

1 paper

NM_000492.4

p.N48K

c.144T>A

11 papers

NM_000492.4

p.S50P

c.148T>C

1 paper

NM_000492.4

p.N48K

c.144T>G

1 paper

NM_000492.4

p.S50A

c.148T>G

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

13 papers

NM_000492.4

p.S50Y

c.149C>A

1 paper

NM_000492.4

p.S50F

c.149C>T