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

10 papers

NM_000492.4

p.W356C

c.1068G>C

Surrounding Variants

11 papers

NM_000492.4

p.W356*

c.1068G>A

10 papers

NM_000492.4

p.W356C

c.1068G>T

17 papers

NM_000492.4

p.A357T

c.1069G>A

11 papers

NM_000492.4

p.W356*

c.1067G>A

5 papers

NM_000492.4

p.A357P

c.1069G>C

4 papers

NM_000492.4

p.W356S

c.1067G>C

6 papers

NM_000492.4

p.A357V

c.1070C>T

2 papers

NM_000492.4

p.V358delFs

c.1072_1073delGT

1 paper

NM_000492.4

p.W356R

c.1066T>A

1 paper

NM_000492.4

p.W356R

c.1066T>C

1 paper

NM_000492.4

p.W356fs

c.1066_1067fs

2 papers

NM_000492.4

p.A357delFs

c.1069delG