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

20 papers

NM_000492.4

p.H939R

c.2816A>G

Surrounding Variants

3 papers

NM_000492.4

p.T940_L941delFs

c.2819_2823del5

2 papers

NM_000492.4

p.T940_V944delFs

c.2818_2831del14

7 papers

NM_000492.4

p.H939D

c.2815C>G

2 papers

NM_000492.4

p.H939delFs

c.2816delA

1 paper

NM_000492.4

p.H939Q

c.2817T>A

1 paper

NM_000492.4

p.H939Q

c.2817T>G

1 paper

NM_000492.4

p.T940delFs

c.2818_2819delAC

1 paper

NM_000492.4

p.V938_H939insFs

c.2814_2815insA

3 papers

NM_000492.4

p.T940insFs

c.2819_2820insA

3 papers

NM_000492.4

p.T940I

c.2819C>T

25 papers

NM_000492.4

p.V938G

c.2813T>G

1 paper

NM_000492.4

p.V938insFs

c.2813_2814insG