Varaico: Literature-Extracted Genetic Variants

ABCC2

1,239 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

TMD0_ABCaa 3–165UCSCABC transporter TMD0 domain

ABC_membraneaa 322–593UCSCABC transporter transmembrane region

ABC_tranaa 654–789UCSCABC transporter

ABC_membraneaa 979–1251UCSCABC transporter transmembrane region

ABC_tranaa 1317–1465UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 2

HGNC Previous Symbol

CMOAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000392.5

p.T1155delFs

c.3463delA

Surrounding Variants

2 papers

NM_000392.5

p.T1155fs

c.3463_3464fs

1 paper

NM_000392.5

p.T1155A

c.3463A>G

1 paper

NM_000392.5

p.D1152A

c.3455A>C

1 paper

NM_000392.5

p.D1152H

c.3454G>C

1 paper

NM_000392.5

p.P1158A

c.3472C>G

24 papers

NM_000392.5

p.R1150H

c.3449G>A

1 paper

NM_000392.5

p.S1161F

c.3482C>T

1 paper

NM_000392.5

p.Q1147*

c.3439C>T

1 paper

NM_000392.5

p.R1146H

c.3437G>A

3 papers

NM_000392.5

p.R1146C

c.3436C>T

56 papers

NM_000392.5

p.S1145S

c.3435C>T

1 paper

NM_000392.5

p.S1164I

c.3491G>T