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

7 papers

NM_000492.4

p.D112G

c.335A>G

Surrounding Variants

1 paper

NM_000492.4

p.D112A

c.335A>C

1 paper

NM_000492.4

p.D112N

c.334G>A

1 paper

NM_000492.4

p.D112E

c.336T>A

2 papers

NM_000492.4

p.D112D

c.336T>C

1 paper

NM_000492.4

p.N113_K114delFs

c.339_340delCA

2 papers

NM_000492.4

p.P111P

c.333G>A

1 paper

NM_000492.4

p.P111P

c.333G>C

2 papers

NM_000492.4

p.D112_N113del2

c.334_338del6

3 papers

NM_000492.4

p.N113I

c.338A>T

4 papers

NM_000492.4

p.P111R

c.332C>G

26 papers

NM_000492.4

p.P111L

c.332C>T

1 paper

NM_000492.4

p.P111fs

c.331_332fs