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

3 papers

NM_000492.4

p.S911R

c.2733T>A

Surrounding Variants

3 papers

NM_000492.4

p.S911R

c.2733T>G

2 papers

NM_000492.4

p.S911_S912insFs

c.2733_2734insA

1 paper

NM_000492.4

p.S911N

c.2732G>A

8 papers

NM_000492.4

p.S911insFs

c.2732_2733insA

1 paper

NM_000492.4

p.S911I

c.2732G>T

2 papers

NM_000492.4

p.S912T

c.2734T>A

3 papers

NM_000492.4

p.S911R

c.2731A>C

1 paper

NM_000492.4

p.S911C

c.2731A>T

25 papers

NM_000492.4

p.S912*

c.2735C>A

1 paper

NM_000492.4

p.S912insFs

c.2736dupG

2 papers

NM_000492.4

p.S912W

c.2735C>G

55 papers

NM_000492.4

p.S912L

c.2735C>T