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.T1278T

c.3834T>C

Surrounding Variants

2 papers

NM_000492.4

p.L1279delFs

c.3835_3836delTT

1 paper

NM_000492.4

p.T1278_L1279insG

c.3832_3836ins3

2 papers

NM_000492.4

p.T1278A

c.3832A>G

1 paper

NM_000492.4

p.Q1280K

c.3838C>A

5 papers

NM_000492.4

p.Q1280E

c.3838C>G

3 papers

NM_000492.4

p.Q1280*

c.3838C>T

1 paper

NM_000492.4

p.I1277T

c.3830T>C

1 paper

NM_000492.4

p.I1277_T1278ins4

c.3829_3833ins12

3 papers

NM_000492.4

p.I1277V

c.3829A>G

5 papers

NM_000492.4

p.S1276*

c.3827C>A

1 paper

NM_000492.4

p.Q1281K

c.3841C>A

5 papers

NM_000492.4

p.S1276*

c.3827C>G