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

11 papers

NM_000492.4

p.I1000delFs

c.2998delA

Surrounding Variants

1 paper

NM_000492.4

p.I1000_A1004del0

c.2998_3012del15

3 papers

NM_000492.4

p.I1000fs

c.2998_2999fs

2 papers

NM_000492.4

p.I1000V

c.2998A>G

3 papers

NM_000492.4

p.I1000fs

c.2998_2999fs

1 paper

NM_000492.4

p.L998*

c.2993T>A

1 paper

NM_000492.4

p.L998*

c.2993T>G

6 papers

NM_000492.4

p.L998delFs

c.2994delA

11 papers

NM_000492.4

p.L999_I1000delFs

c.2997_3000del4

7 papers

NM_000492.4

p.V1001delFs

c.3002_3003delTG

2 papers

NM_000492.4

p.I1000M

c.3000T>G

1 paper

NM_000492.4

p.L998fs

c.2992_2993fs

264 papers

NM_000492.4

p.L997F

c.2991G>C