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

25 papers

NM_000492.4

p.W496*

c.1487G>A

Surrounding Variants

25 papers

NM_000492.4

p.W496*

c.1488G>A

3 papers

NM_000492.4

p.W496C

c.1488G>C

4 papers

NM_000492.4

p.W496C

c.1488G>T

7 papers

NM_000492.4

p.W496R

c.1486T>A

7 papers

NM_000492.4

p.W496R

c.1486T>C

3 papers

NM_000492.4

p.W496G

c.1486T>G

6 papers

NM_000492.4

p.I497V

c.1489A>G

3 papers

NM_000492.4

p.W496delFs

c.1486delT

3 papers

NM_000492.4

p.S495Y

c.1484C>A

2 papers

NM_000492.4

p.S495C

c.1484C>G

3 papers

NM_000492.4

p.S495F

c.1484C>T

1 paper

NM_000492.4

p.S495_W496delFs

c.1485_1486delCT