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.L935Q

c.2804T>A

Surrounding Variants

2 papers

NM_000492.4

p.L935delFs

c.2805delA

1 paper

NM_000492.4

p.L935L

c.2805A>G

5 papers

NM_000492.4

p.L935_L937Fs

c.2805_2810delinsTCAGAFs

4 papers

NM_000492.4

p.P936T

c.2806C>A

1 paper

NM_000492.4

p.L935_L937del0

c.2805_2810del6

8 papers

NM_000492.4

p.L935_L937del3

c.2803_2810del9

2 papers

NM_000492.4

p.P936L

c.2807C>T

1 paper

NM_000492.4

p.P936P

c.2808A>G

2 papers

NM_000492.4

p.L937_V938del2

c.2809_2813del6

4 papers

NM_000492.4

p.G934S

c.2800G>A

1 paper

NM_000492.4

p.G934C

c.2800G>T

4 papers

NM_000492.4

p.R933S

c.2799A>C