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.K1218delFs

c.3654delA

Surrounding Variants

1 paper

NM_000492.4

p.A1217E

c.3650C>A

2 papers

NM_000492.4

p.A1217V

c.3650C>T

6 papers

NM_000492.4

p.A1217_K1218insFs

c.3651_3652ins4

1 paper

NM_000492.4

p.T1216T

c.3648A>C

1 paper

NM_000492.4

p.K1218*

c.3652A>T

2 papers

NM_000492.4

p.K1218R

c.3653A>G

1 paper

NM_000492.4

p.T1216R

c.3647C>G

1 paper

NM_000492.4

p.T1216S

c.3646A>T

1 paper

NM_000492.4

p.Y1219H

c.3655T>C

2 papers

NM_000492.4

p.Y1219C

c.3656A>G

4 papers

NM_000492.4

p.Y1219F

c.3656A>T

6 papers

NM_000492.4

p.Y1219*

c.3657C>A