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

15 papers

NM_000492.4

p.N703delFs

c.2108delA

Surrounding Variants

2 papers

NM_000492.4

p.L702L

c.2106C>G

2 papers

NM_000492.4

p.N703D

c.2107A>G

1 paper

NM_000492.4

p.L702R

c.2105T>G

1 paper

NM_000492.4

p.L702_N706Fs

c.2105_2117delinsAGAAAFs

3 papers

NM_000492.4

p.L702_N706delins

c.2105_2118delinsAGAAA

2 papers

NM_000492.4

p.N703T

c.2108A>C

3 papers

NM_000492.4

p.N703S

c.2108A>G

3 papers

NM_000492.4

p.N703I

c.2108A>T

1 paper

NM_000492.4

p.L702I

c.2104C>A

4 papers

NM_000492.4

p.L702insFs

c.2104_2105insA

1 paper

NM_000492.4

p.L702_N706delFs

c.2105_2117del13

1 paper

NM_000492.4

p.P704insFs

c.2111_2112insC