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.A1225insFs

c.3674_3675insT

Surrounding Variants

6 papers

NM_000492.4

p.A1225V

c.3674C>T

2 papers

NM_000492.4

p.A1225T

c.3673G>A

3 papers

NM_000492.4

p.I1226L

c.3676A>C

1 paper

NM_000492.4

p.I1226V

c.3676A>G

3 papers

NM_000492.4

p.I1226L

c.3676A>T

3 papers

NM_000492.4

p.N1224K

c.3672T>A

3 papers

NM_000492.4

p.N1224K

c.3672T>G

1 paper

NM_000492.4

p.I1226T

c.3677T>C

2 papers

NM_000492.4

p.I1226R

c.3677T>G

2 papers

NM_000492.4

p.I1226delFs

c.3678delA

1 paper

NM_000492.4

p.G1223E

c.3668G>A

3 papers

NM_000492.4

p.N1224delFs

c.3670delA