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

6 papers

NM_000492.4

p.L387delFs

c.1159_1160delTT

Surrounding Variants

1 paper

NM_000492.4

p.L387insFs

c.1160_1161insT

3 papers

NM_000492.4

p.L387fs

c.1159_1160fs

2 papers

NM_000492.4

p.T388_T390delFs

c.1162_1168del7

3 papers

NM_000492.4

p.N386insFs

c.1157_1158insTA

1 paper

NM_000492.4

p.N386fs

c.1156_1157fs

1 paper

NM_000492.4

p.N386Y

c.1156A>T

3 papers

NM_000492.4

p.N386fs

c.1156_1157fs

1 paper

NM_000492.4

p.L387_T388insFs

c.1161_1162insG

3 papers

NM_000492.4

p.L387F

c.1161A>C

1 paper

NM_000492.4

p.L387L

c.1161A>G

3 papers

NM_000492.4

p.L387F

c.1161A>T

2 papers

NM_000492.4

p.N386insFs

c.1157dupA