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

4 papers

NM_000492.4

p.D173delFs

c.519delT

Surrounding Variants

4 papers

NM_000492.4

p.K174_I177del4

c.520_530del12

1 paper

NM_000492.4

p.D173N

c.517G>A

3 papers

NM_000492.4

p.K174_S176delFs

c.522_526del5

1 paper

NM_000492.4

p.D173E

c.519T>A

1 paper

NM_000492.4

p.D173E

c.519T>G

1 paper

NM_000492.4

p.D173_K174insFs

c.519_520insC

4 papers

NM_000492.4

p.K174_I175insA

c.520_524ins3

1 paper

NM_000492.4

p.L172L

c.516A>G

3 papers

NM_000492.4

p.K174R

c.521A>G

1 paper

NM_000492.4

p.L172P

c.515T>C

1 paper

NM_000492.4

p.K174N

c.522A>C

1 paper

NM_000492.4

p.K174N

c.522A>T