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

1 paper

NM_000392.5

p.E1177D

c.3531G>C

Surrounding Variants

1 paper

NM_000392.5

p.Q1179E

c.3535C>G

1 paper

NM_000392.5

p.Q1180*

c.3538C>T

1 paper

NM_000392.5

p.A1175T

c.3523G>A

1 paper

NM_000392.5

p.R1181*

c.3541C>T

1 paper

NM_000392.5

p.F1182_R1189delFs

c.3544_3565del22

8 papers

NM_000392.5

p.R1174H

c.3521G>A

1 paper

NM_000392.5

p.R1174C

c.3520C>T

3 papers

NM_000392.5

p.R1181Q

c.3542G>A

21 papers

NM_000392.5

p.R1181L

c.3542G>T

25 papers

NM_000392.5

p.I1173F

c.3517A>T

2 papers

NM_000392.5

p.L1183M

c.3547C>A

1 paper

NM_000392.5

p.L1183_K1184insAW

c.3547_3551ins6