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.R1239G

c.3715A>G

Surrounding Variants

2 papers

NM_000492.4

p.R1239K

c.3716G>A

2 papers

NM_000492.4

p.R1239delFs

c.3715delA

1 paper

NM_000492.4

p.Q1238P

c.3713A>C

8 papers

NM_000492.4

p.Q1238R

c.3713A>G

6 papers

NM_000492.4

p.R1239del1

c.3715_3716delAGG

16 papers

NM_000492.4

p.R1239R

c.3717G>A

6 papers

NM_000492.4

p.R1239S

c.3717G>C

6 papers

NM_000492.4

p.R1239S

c.3717G>T

1 paper

NM_000492.4

p.Q1238K

c.3712C>A

28 papers

NM_000492.4

p.Q1238*

c.3712C>T

6 papers

NM_000492.4

p.R1239_V1240Splc

c.3717+1G>A

12 papers

NM_000492.4

p.G1237D

c.3710G>A