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

3 papers

NM_000492.4

p.K114N

c.342G>T

Surrounding Variants

3 papers

NM_000492.4

p.K114N

c.342G>C

1 paper

NM_000492.4

p.K114R

c.341A>G

1 paper

NM_000492.4

p.E115K

c.343G>A

1 paper

NM_000492.4

p.E115A

c.344A>C

1 paper

NM_000492.4

p.K114E

c.340A>G

1 paper

NM_000492.4

p.E115G

c.344A>G

4 papers

NM_000492.4

p.K114*

c.340A>T

4 papers

NM_000492.4

p.E115del1

c.343_345delGAG

1 paper

NM_000492.4

p.K114_I119delFs

c.342_355del14

2 papers

NM_000492.4

p.K114del1

c.340_341delAAG

2 papers

NM_000492.4

p.E115E

c.345G>A

3 papers

NM_000492.4

p.N113I

c.338A>T