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

89 papers

NM_000492.4

p.I1027T

c.3080T>C

Surrounding Variants

1 paper

NM_000492.4

p.I1027S

c.3080T>G

2 papers

NM_000492.4

p.I1027insFs

c.3081dupT

1 paper

NM_000492.4

p.I1027_A1031Fs

c.3081_3092delinsCGFs

2 papers

NM_000492.4

p.M1028_L1029delFs

c.3084_3085delGT

2 papers

NM_000492.4

p.M1028fs

c.3082_3083fs

7 papers

NM_000492.4

p.M1028R

c.3083T>G

17 papers

NM_000492.4

p.M1028I

c.3084G>A

17 papers

NM_000492.4

p.M1028I

c.3084G>C

17 papers

NM_000492.4

p.M1028I

c.3084G>T

1 paper

NM_000492.4

p.M1028_R1030Fs

c.3084_3088delinsATGFs

3 papers

NM_000492.4

p.L1029M

c.3085T>A

5 papers

NM_000492.4

p.A1025D

c.3074C>A