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.N432N

c.1296T>C

Surrounding Variants

4 papers

NM_000492.4

p.S434_L436delFs

c.1301_1307del7

2 papers

NM_000492.4

p.N432S

c.1295A>G

17 papers

NM_000492.4

p.F433L

c.1297T>C

1 paper

NM_000492.4

p.F433V

c.1297T>G

1 paper

NM_000492.4

p.F433C

c.1298T>G

17 papers

NM_000492.4

p.F433L

c.1299C>A

17 papers

NM_000492.4

p.F433L

c.1299C>G

2 papers

NM_000492.4

p.S431R

c.1293T>A

2 papers

NM_000492.4

p.S431R

c.1293T>G

1 paper

NM_000492.4

p.S431I

c.1292G>T

1 paper

NM_000492.4

p.N432_S434delFs

c.1294_1300del7

11 papers

NM_000492.4

p.S434P

c.1300T>C