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

5 papers

NM_000492.4

p.Y913S

c.2738A>C

Surrounding Variants

28 papers

NM_000492.4

p.Y913C

c.2738A>G

27 papers

NM_000492.4

p.Y913*

c.2739T>A

27 papers

NM_000492.4

p.Y913*

c.2739T>G

8 papers

NM_000492.4

p.Y913insFs

c.2737_2738insG

1 paper

NM_000492.4

p.Y913fs

c.2737_2738fs

3 papers

NM_000492.4

p.S912S

c.2736G>A

1 paper

NM_000492.4

p.Y914S

c.2741A>C

5 papers

NM_000492.4

p.Y914C

c.2741A>G

3 papers

NM_000492.4

p.Y914F

c.2741A>T

3 papers

NM_000492.4

p.V915_F916delFs

c.2745_2746delGT

25 papers

NM_000492.4

p.S912*

c.2735C>A

1 paper

NM_000492.4

p.S912insFs

c.2736dupG