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.W361C

c.1083G>C

Surrounding Variants

9 papers

NM_000492.4

p.W361*

c.1083G>A

3 papers

NM_000492.4

p.W361_Y362insFs

c.1083_1084ins5

2 papers

NM_000492.4

p.W361C

c.1083G>T

12 papers

NM_000492.4

p.W361*

c.1082G>A

1 paper

NM_000492.4

p.W361L

c.1082G>T

2 papers

NM_000492.4

p.Y362H

c.1084T>C

2 papers

NM_000492.4

p.Y362D

c.1084T>G

2 papers

NM_000492.4

p.Y362C

c.1085A>G

1 paper

NM_000492.4

p.Y362F

c.1085A>T

28 papers

NM_000492.4

p.W361R

c.1081T>A

28 papers

NM_000492.4

p.W361R

c.1081T>C

1 paper

NM_000492.4

p.W361fs

c.1081_1082fs