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

2 papers

NM_000492.4

p.E402K

c.1204G>A

Surrounding Variants

6 papers

NM_000492.4

p.E402*

c.1204G>T

1 paper

NM_000492.4

p.E402G

c.1205A>G

38 papers

NM_000492.4

p.W401*

c.1203G>A

2 papers

NM_000492.4

p.W401C

c.1203G>C

1 paper

NM_000492.4

p.W401_E402insFs

c.1203_1204insA

2 papers

NM_000492.4

p.W401C

c.1203G>T

39 papers

NM_000492.4

p.W401*

c.1202G>A

1 paper

NM_000492.4

p.E402E

c.1206G>A

1 paper

NM_000492.4

p.W401L

c.1202G>T

2 papers

NM_000492.4

p.E403delFs

c.1208delA

2 papers

NM_000492.4

p.W401R

c.1201T>A

2 papers

NM_000492.4

p.W401R

c.1201T>C