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

1 paper

NM_000492.4

p.V201L

c.601G>C

Surrounding Variants

107 papers

NM_000492.4

p.V201M

c.601G>A

2 papers

NM_000492.4

p.V201L

c.601G>T

3 papers

NM_000492.4

p.F200L

c.600C>A

3 papers

NM_000492.4

p.F200L

c.600C>G

1 paper

NM_000492.4

p.F200F

c.600C>T

3 papers

NM_000492.4

p.V201delFs

c.601delG

3 papers

NM_000492.4

p.W202delFs

c.604_605delTG

1 paper

NM_000492.4

p.V201_W202del2

c.601_605del6

2 papers

NM_000492.4

p.V201V

c.603G>A

1 paper

NM_000492.4

p.F200Y

c.599T>A

4 papers

NM_000492.4

p.F200C

c.599T>G

7 papers

NM_000492.4

p.F200I

c.598T>A