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.V1198M

c.3592G>A

Surrounding Variants

1 paper

NM_000492.4

p.V1198L

c.3592G>C

1 paper

NM_000492.4

p.V1198L

c.3592G>T

1 paper

NM_000492.4

p.H1197H

c.3591C>T

2 papers

NM_000492.4

p.V1198delFs

c.3592delG

5 papers

NM_000492.4

p.H1197R

c.3590A>G

2 papers

NM_000492.4

p.H1197L

c.3590A>T

2 papers

NM_000492.4

p.V1198_I1203del6

c.3592_3608del18

4 papers

NM_000492.4

p.V1198V

c.3594G>T

2 papers

NM_000492.4

p.K1199R

c.3596A>G

1 paper

NM_000492.4

p.S1196S

c.3588A>T

81 papers

NM_000492.4

p.S1196*

c.3587C>A

82 papers

NM_000492.4

p.S1196*

c.3587C>G