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.S1037P

c.3109T>C

Surrounding Variants

1 paper

NM_000492.4

p.S1037_Q1038insA

c.3109_3113ins3

3 papers

NM_000492.4

p.S1037*

c.3110C>A

3 papers

NM_000492.4

p.S1037*

c.3110C>G

1 paper

NM_000492.4

p.S1037S

c.3111A>G

25 papers

NM_000492.4

p.T1036N

c.3107C>A

13 papers

NM_000492.4

p.T1036I

c.3107C>T

7 papers

NM_000492.4

p.Q1038*

c.3112C>T

1 paper

NM_000492.4

p.Q1038R

c.3113A>G

1 paper

NM_000492.4

p.Q1038L

c.3113A>T

1 paper

NM_000492.4

p.Q1035R

c.3104A>G

6 papers

NM_000492.4

p.Q1035*

c.3103C>T

3 papers

NM_000492.4

p.T1036delFs

c.3106delA