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.G1333W

c.3997G>T

Surrounding Variants

2 papers

NM_000492.4

p.G1333_K1334ins4

c.3997_4001ins12

2 papers

NM_000492.4

p.G1333delFs

c.3999delG

1 paper

NM_000492.4

p.P1332H

c.3995C>A

2 papers

NM_000492.4

p.P1332L

c.3995C>T

3 papers

NM_000492.4

p.K1334R

c.4001A>G

3 papers

NM_000492.4

p.F1331L

c.3993T>A

3 papers

NM_000492.4

p.F1331L

c.3993T>G

2 papers

NM_000492.4

p.K1334K

c.4002G>A

10 papers

NM_000492.4

p.L1335F

c.4003C>T

3 papers

NM_000492.4

p.F1331L

c.3991T>C

51 papers

NM_000492.4

p.L1335P

c.4004T>C

1 paper

NM_000492.4

p.Q1330fs

c.3988_3989fs