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.M645L

c.1933A>T

Surrounding Variants

1 paper

NM_000492.4

p.L644L

c.1932C>G

5 papers

NM_000492.4

p.M645K

c.1934T>A

7 papers

NM_000492.4

p.M645T

c.1934T>C

1 paper

NM_000492.4

p.M645R

c.1934T>G

2 papers

NM_000492.4

p.M645I

c.1935G>A

2 papers

NM_000492.4

p.M645I

c.1935G>C

2 papers

NM_000492.4

p.M645I

c.1935G>T

2 papers

NM_000492.4

p.G646R

c.1936G>A

2 papers

NM_000492.4

p.G646R

c.1936G>C

4 papers

NM_000492.4

p.G646*

c.1936G>T

2 papers

NM_000492.4

p.K643R

c.1928A>G

2 papers

NM_000492.4

p.K643Q

c.1927A>C