Varaico: Literature-Extracted Genetic Variants

ABCA10

143 papers

RefSeq Summary

The membrane-associated 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 intracellular...

Pfam Domains

ABC2_membrane_3aa 75–329UCSCABC-2 family transporter protein

ABC_tranaa 410–556UCSCABC transporter

ACT_13aa 621–694UCSCACT-like domain

ABC_tranaa 1222–1368UCSCABC transporter

R1_ABCA1aa 1432–1506UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 10

HGNC Alias Symbol

EST698739

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377321.1

p.P1366L

c.4097C>T

Surrounding Variants

1 paper

NM_001377321.1

p.G1369W

c.4105G>T

1 paper

NM_001377321.1

p.E1373K

c.4117G>A

1 paper

NM_001377321.1

p.N1357_P1358del2

c.4069_4073del6

1 paper

NM_001377321.1

p.T1339I

c.4016C>T

1 paper

NM_001377321.1

p.E1331_K1334del4

c.3991_4001del12

1 paper

NM_001377321.1

p.Q1330_L1333del4

c.3988_3998del12

1 paper

NM_001377321.1

p.K1328_E1331del4

c.3982_3992del12

1 paper

NM_001377321.1

p.R1322L

c.3965G>T

1 paper

NM_001377321.1

p.R1322Q

c.3965G>A

7 papers

NM_001377321.1

p.R1322*

c.3964C>T

1 paper

NM_001377321.1

p.R1322L

c.3965G>T

2 papers

NM_001377321.1

p.R1322Q

c.3965G>A