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

2 papers

NM_000492.4

p.K1351N

c.4053G>T

Surrounding Variants

1 paper

NM_000492.4

p.K1351K

c.4053G>A

2 papers

NM_000492.4

p.K1351N

c.4053G>C

1 paper

NM_000492.4

p.K1351_Q1352delins

c.4053_4054delinsAG

4 papers

NM_000492.4

p.K1351R

c.4052A>G

9 papers

NM_000492.4

p.Q1352E

c.4054C>G

6 papers

NM_000492.4

p.Q1352*

c.4054C>T

5 papers

NM_000492.4

p.K1351E

c.4051A>G

5 papers

NM_000492.4

p.K1351*

c.4051A>T

5 papers

NM_000492.4

p.H1350Q

c.4050C>A

5 papers

NM_000492.4

p.H1350Q

c.4050C>G

2 papers

NM_000492.4

p.H1350H

c.4050C>T

129 papers

NM_000492.4

p.Q1352H

c.4056G>C