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.S737fs

c.2209_2210fs

Surrounding Variants

1 paper

NM_000492.4

p.S737T

c.2209T>A

1 paper

NM_000492.4

p.S737P

c.2209T>C

32 papers

NM_000492.4

p.S737A

c.2209T>G

1 paper

NM_000492.4

p.S737C

c.2210C>G

41 papers

NM_000492.4

p.S737F

c.2210C>T

1 paper

NM_000492.4

p.L736L

c.2208G>C

1 paper

NM_000492.4

p.L736_S737insFs

c.2208_2209insC

1 paper

NM_000492.4

p.L738insFs

c.2212_2213insG

3 papers

NM_000492.4

p.R735S

c.2205G>C

3 papers

NM_000492.4

p.R735S

c.2205G>T

2 papers

NM_000492.4

p.L738*

c.2213T>A

2 papers

NM_000492.4

p.L738*

c.2213T>G