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

34 papers

NM_000492.4

p.M952T

c.2855T>C

Surrounding Variants

52 papers

NM_000492.4

p.M952I

c.2856G>A

54 papers

NM_000492.4

p.M952I

c.2856G>C

52 papers

NM_000492.4

p.M952I

c.2856G>T

1 paper

NM_000492.4

p.K951R

c.2852A>G

4 papers

NM_000492.4

p.L953_L964delFs

c.2859_2890del32

1 paper

NM_000492.4

p.K951Q

c.2851A>C

6 papers

NM_000492.4

p.K951E

c.2851A>G

2 papers

NM_000492.4

p.K951*

c.2851A>T

1 paper

NM_000492.4

p.H950Q

c.2850C>A

1 paper

NM_000492.4

p.H950Q

c.2850C>G

2 papers

NM_000492.4

p.H954Y

c.2860C>T

1 paper

NM_000492.4

p.H954insFs

c.2862dupT