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.K503E

c.1507A>G

Surrounding Variants

1 paper

NM_000492.4

p.K503Q

c.1507A>C

1 paper

NM_000492.4

p.K503_E504del2

c.1507_1511del6

4 papers

NM_000492.4

p.I502N

c.1505T>A

29 papers

NM_000492.4

p.I502T

c.1505T>C

3 papers

NM_000492.4

p.I502S

c.1505T>G

1 paper

NM_000492.4

p.K503_N505del0

c.1507_1515del9

5 papers

NM_000492.4

p.I502V

c.1504A>G

11 papers

NM_000492.4

p.E504Q

c.1510G>C

5 papers

NM_000492.4

p.E504*

c.1510G>T

1 paper

NM_000492.4

p.N505delFs

c.1514delA

2 papers

NM_000492.4

p.E504A

c.1511A>C

1 paper

NM_000492.4

p.E504D

c.1512A>C