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.A280G

c.839C>G

Surrounding Variants

1 paper

NM_000492.4

p.A280V

c.839C>T

3 papers

NM_000492.4

p.A280_M281insFs

c.840_841insT

3 papers

NM_000492.4

p.A280T

c.838G>A

4 papers

NM_000492.4

p.A280S

c.838G>T

1 paper

NM_000492.4

p.A280delFs

c.839delC

8 papers

NM_000492.4

p.E279D

c.837A>C

4 papers

NM_000492.4

p.M281V

c.841A>G

9 papers

NM_000492.4

p.E279D

c.837A>T

1 paper

NM_000492.4

p.A280delFs

c.838delG

8 papers

NM_000492.4

p.M281T

c.842T>C

2 papers

NM_000492.4

p.M281R

c.842T>G

4 papers

NM_000492.4

p.E279*

c.835G>T