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.F1078L

c.3232T>C

Surrounding Variants

1 paper

NM_000492.4

p.F1078I

c.3232T>A

1 paper

NM_000492.4

p.F1078fs

c.3232_3233fs

1 paper

NM_000492.4

p.L1077L

c.3231G>C

3 papers

NM_000492.4

p.F1078S

c.3233T>C

1 paper

NM_000492.4

p.F1078F

c.3234C>T

156 papers

NM_000492.4

p.L1077P

c.3230T>C

1 paper

NM_000492.4

p.L1077R

c.3230T>G

1 paper

NM_000492.4

p.H1079Y

c.3235C>T

5 papers

NM_000492.4

p.L1077_F1078delFs

c.3231_3232delGT

1 paper

NM_000492.4

p.L1077fs

c.3229_3230fs

5 papers

NM_000492.4

p.H1079P

c.3236A>C

1 paper

NM_000492.4

p.H1079H

c.3237C>T