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

4 papers

NM_000492.4

p.V540I

c.1618G>A

Surrounding Variants

83 papers

NM_000492.4

p.I539T

c.1616T>C

1 paper

NM_000492.4

p.L541I

c.1621C>A

3 papers

NM_000492.4

p.N538K

c.1614T>A

11 papers

NM_000492.4

p.L541P

c.1622T>C

1 paper

NM_000492.4

p.N538N

c.1614T>C

2 papers

NM_000492.4

p.N538K

c.1614T>G

2 papers

NM_000492.4

p.I539insFs

c.1616_1617dupTA

2 papers

NM_000492.4

p.N538H

c.1612A>C

1 paper

NM_000492.4

p.N538Y

c.1612A>T

15 papers

NM_000492.4

p.G542R

c.1624G>A

15 papers

NM_000492.4

p.G542R

c.1624G>C

2077 papers

NM_000492.4

p.G542*

c.1624G>T