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

2 papers

NM_000492.4

p.S1456N

c.4367G>A

Surrounding Variants

2 papers

NM_000492.4

p.S1456R

c.4366A>C

2 papers

NM_000492.4

p.S1456R

c.4368C>A

2 papers

NM_000492.4

p.S1456R

c.4368C>G

78 papers

NM_000492.4

p.S1455*

c.4364C>A

79 papers

NM_000492.4

p.S1455*

c.4364C>G

1 paper

NM_000492.4

p.K1457N

c.4371G>C

1 paper

NM_000492.4

p.K1457N

c.4371G>T

2 papers

NM_000492.4

p.S1455A

c.4363T>G

1 paper

NM_000492.4

p.N1454K

c.4362C>A

6 papers

NM_000492.4

p.C1458S

c.4372T>A

1 paper

NM_000492.4

p.C1458_K1459insT

c.4372_4376ins3

6 papers

NM_000492.4

p.C1458S

c.4373G>C