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

1 paper

NM_000492.4

p.L662R

c.1985T>G

Surrounding Variants

3 papers

NM_000492.4

p.L662P

c.1985T>C

1 paper

NM_000492.4

p.L662_E664delFs

c.1986_1990del5

1 paper

NM_000492.4

p.L662_L666delins

c.1985_1998delinsAGAAA

2 papers

NM_000492.4

p.T663_H667delFs

c.1987_2000del14

1 paper

NM_000492.4

p.L662fs

c.1984_1985fs

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

6 papers

NM_000492.4

p.T663fs

c.1987_1988fs

1 paper

NM_000492.4

p.I661I

c.1983C>A

4 papers

NM_000492.4

p.I661M

c.1983C>G

11 papers

NM_000492.4

p.L662_T663delFs

c.1986_1989del4