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.T1171A

c.3511A>G

Surrounding Variants

2 papers

NM_000492.4

p.T1171P

c.3511A>C

2 papers

NM_000492.4

p.T1171_E1172ins2

c.3513_3514ins6

1 paper

NM_000492.4

p.T1171I

c.3512C>T

2 papers

NM_000492.4

p.P1170T

c.3508C>A

3 papers

NM_000492.4

p.P1170S

c.3508C>T

5 papers

NM_000492.4

p.E1172*

c.3514G>T

1 paper

NM_000492.4

p.E1172D

c.3516A>C

1 paper

NM_000492.4

p.E1172D

c.3516A>T

7 papers

NM_000492.4

p.G1173S

c.3517G>A

1 paper

NM_000492.4

p.D1168D

c.3504C>T

2 papers

NM_000492.4

p.G1173D

c.3518G>A

11 papers

NM_000492.4

p.D1168G

c.3503A>G