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.L1414F

c.4242G>T

Surrounding Variants

2 papers

NM_000492.4

p.L1414delins

c.4242delinsAGAA

1 paper

NM_000492.4

p.L1414F

c.4242G>C

14 papers

NM_000492.4

p.L1414_V1415Splc

c.4242+1G>A

3 papers

NM_000492.4

p.L1414_V1415Splc

c.4242+1G>C

12 papers

NM_000492.4

p.L1414_V1415Splc

c.4242+1G>T

6 papers

NM_000492.4

p.L1414S

c.4241T>C

3 papers

NM_000492.4

p.L1414_V1415Splc

c.4242+2T>C

1 paper

NM_000492.4

p.L1414fs

c.4240_4241fs

3 papers

NM_000492.4

p.F1413L

c.4239T>A

3 papers

NM_000492.4

p.F1413L

c.4239T>G

1 paper

NM_000492.4

p.L1414del1

c.4240_4241delTTG

1 paper

NM_000492.4

p.F1413I

c.4237T>A