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.E664A

c.1991A>C

Surrounding Variants

3 papers

NM_000492.4

p.E664D

c.1992G>C

2 papers

NM_000492.4

p.E664Q

c.1990G>C

12 papers

NM_000492.4

p.E664*

c.1990G>T

3 papers

NM_000492.4

p.E664D

c.1992G>T

2 papers

NM_000492.4

p.T665A

c.1993A>G

23 papers

NM_000492.4

p.T665S

c.1993A>T

20 papers

NM_000492.4

p.T665S

c.1994C>G

2 papers

NM_000492.4

p.T663S

c.1988C>G

1 paper

NM_000492.4

p.T663I

c.1988C>T

1 paper

NM_000492.4

p.T663_E664insT

c.1987_1991ins3

8 papers

NM_000492.4

p.T663A

c.1987A>G

2 papers

NM_000492.4

p.T663S

c.1987A>T