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

3 papers

NM_000492.4

p.V1421L

c.4261G>T

Surrounding Variants

3 papers

NM_000492.4

p.V1421L

c.4261G>C

6 papers

NM_000492.4

p.V1421E

c.4262T>A

1 paper

NM_000492.4

p.K1420R

c.4259A>G

1 paper

NM_000492.4

p.K1420E

c.4258A>G

1 paper

NM_000492.4

p.K1420*

c.4258A>T

7 papers

NM_000492.4

p.R1422W

c.4264C>T

4 papers

NM_000492.4

p.R1422Q

c.4265G>A

3 papers

NM_000492.4

p.N1419T

c.4256A>C

1 paper

NM_000492.4

p.N1419S

c.4256A>G

1 paper

NM_000492.4

p.N1419H

c.4255A>C

1 paper

NM_000492.4

p.Q1423*

c.4267C>T

1 paper

NM_000492.4

p.E1418E

c.4254G>A