Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.K13T

ABCD2

113 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

ABC_membrane_2aa 91–365UCSCABC transporter transmembrane region 2
ABC_tranaa 494–637UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 2

HGNC Previous Symbol

ALDL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005164.4
p.K13T
c.38A>C
Surrounding Variants
4 papers
NM_005164.4
p.A9G
c.26C>G
1 paper
NM_005164.4
p.A19S
c.55G>T
1 paper
NM_005164.4
p.R16_S18del3
c.46_53del9
1 paper
NM_005164.4
p.N6del1
c.16_18delATT
1 paper
NM_005164.4
p.A20V
c.59C>T
1 paper
NM_005164.4
p.N6fs
c.16_17fs
1 paper
NM_005164.4
p.N6_K21delFs
c.17_62del46
2 papers
NM_005164.4
p.A23fs
c.67_68fs
1 paper
NM_005164.4
p.R22_A23del1
c.66_68delGCC
1 paper
NM_005164.4
p.M1I
c.3G>A
2 papers
NM_005164.4
p.A23_A28delFs
c.67_83del17
1 paper
NM_005164.4
p.T35T
c.105C>A
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