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.K1195E

c.3583A>G

Surrounding Variants

1 paper

NM_000392.5

p.D1191Y

c.3571G>T

1 paper

NM_000392.5

p.W1200*

c.3599G>A

2 papers

NM_000392.5

p.W1200L

c.3599G>T

1 paper

NM_000392.5

p.W1200*

c.3600G>A

79 papers

NM_000392.5

p.V1188E

c.3563T>A

2 papers

NM_000392.5

p.E1187E

c.3561G>A

1 paper

NM_000392.5

p.R1205Splc

c.3614+1G>A

1 paper

NM_000392.5

p.R1205Splc

c.3614+2T>G

1 paper

NM_000392.5

p.L1183P

c.3548T>C

2 papers

NM_000392.5

p.L1183M

c.3547C>A

1 paper

NM_000392.5

p.L1183_K1184insAW

c.3547_3551ins6

3 papers

NM_000392.5

p.R1181Q

c.3542G>A