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.K1250T

c.3749A>C

Surrounding Variants

14 papers

NM_000492.4

p.K1250R

c.3749A>G

20 papers

NM_000492.4

p.K1250M

c.3749A>T

2 papers

NM_000492.4

p.K1250fs

c.3748_3749fs

1 paper

NM_000492.4

p.K1250Q

c.3748A>C

6 papers

NM_000492.4

p.K1250fs

c.3748_3749fs

2 papers

NM_000492.4

p.S1251R

c.3751A>C

1 paper

NM_000492.4

p.S1251G

c.3751A>G

388 papers

NM_000492.4

p.S1251N

c.3752G>A

27 papers

NM_000492.4

p.G1249E

c.3746G>A

2 papers

NM_000492.4

p.S1251T

c.3752G>C

34 papers

NM_000492.4

p.G1249R

c.3745G>A

34 papers

NM_000492.4

p.G1249R

c.3745G>C