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

17 papers

NM_000492.4

p.L568F

c.1704G>T

Surrounding Variants

2 papers

NM_000492.4

p.L568L

c.1704G>A

17 papers

NM_000492.4

p.L568F

c.1704G>C

13 papers

NM_000492.4

p.L568*

c.1703T>A

19 papers

NM_000492.4

p.Y569H

c.1705T>C

83 papers

NM_000492.4

p.Y569D

c.1705T>G

1 paper

NM_000492.4

p.Y569delFs

c.1706delA

17 papers

NM_000492.4

p.Y569C

c.1706A>G

1 paper

NM_000492.4

p.L570delFs

c.1708delT

3 papers

NM_000492.4

p.L570_L571delFs

c.1708_1712del5

2 papers

NM_000492.4

p.L568fs

c.1702_1703fs

5 papers

NM_000492.4

p.Y569*

c.1707T>A

1 paper

NM_000492.4

p.D567D

c.1701T>C