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

5 papers

NM_000492.4

p.L32R

c.95T>G

Surrounding Variants

18 papers

NM_000492.4

p.L32P

c.95T>C

6 papers

NM_000492.4

p.L32M

c.94C>A

2 papers

NM_000492.4

p.L32L

c.94C>T

1 paper

NM_000492.4

p.R31R

c.93C>A

1 paper

NM_000492.4

p.R31_L32insFs

c.93_94insA

4 papers

NM_000492.4

p.E33K

c.97G>A

1 paper

NM_000492.4

p.E33insFs

c.98_99insA

1 paper

NM_000492.4

p.E33_L34insC

c.97_101ins3

4 papers

NM_000492.4

p.E33*

c.97G>T

4 papers

NM_000492.4

p.L34_Q39del0

c.100_117del18

1 paper

NM_000492.4

p.E33A

c.98A>C

17 papers

NM_000492.4

p.R31H

c.92G>A