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.Q720R

c.2159A>G

Surrounding Variants

8 papers

NM_000492.4

p.Q720*

c.2158C>T

1 paper

NM_000492.4

p.L719_M721Fs

c.2157_2163delinsGTFs

2 papers

NM_000492.4

p.Q720_E725delFs

c.2158_2173del16

8 papers

NM_000492.4

p.L719*

c.2156T>A

8 papers

NM_000492.4

p.L719*

c.2156T>G

2 papers

NM_000492.4

p.L719fs

c.2155_2156fs

6 papers

NM_000492.4

p.P718R

c.2153C>G

1 paper

NM_000492.4

p.P718L

c.2153C>T

2 papers

NM_000492.4

p.P718S

c.2152C>T

2 papers

NM_000492.4

p.N722K

c.2166T>A

2 papers

NM_000492.4

p.N722K

c.2166T>G

1 paper

NM_000492.4

p.T717T

c.2151T>A