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.Y852insFs

c.2554_2555insT

Surrounding Variants

2 papers

NM_000492.4

p.R851R

c.2553A>G

1 paper

NM_000492.4

p.Y852_V855del4

c.2554_2564del12

10 papers

NM_000492.4

p.R851Q

c.2552G>A

10 papers

NM_000492.4

p.Y852_I853insFs

c.2556_2557insAT

16 papers

NM_000492.4

p.R851L

c.2552G>T

1 paper

NM_000492.4

p.Y852D

c.2554T>G

2 papers

NM_000492.4

p.Y852fs

c.2554_2555fs

2 papers

NM_000492.4

p.Y852insFs

c.2556dupT

6 papers

NM_000492.4

p.Y852F

c.2555A>T

1 paper

NM_000492.4

p.R851G

c.2551C>G

61 papers

NM_000492.4

p.R851*

c.2551C>T

1 paper

NM_000492.4

p.Y852*

c.2556T>A