Varaico: Literature-Extracted Genetic Variants

ABCF3

59 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein e...

Pfam Domains

PWI_ABCF3aa 1–75UCSCABCF3, PWI-like helical bundle domain

ABC_tranaa 193–356UCSCABC transporter

ABC_tran_Xtnaa 395–480UCSCABC transporter

ABC_tranaa 508–639UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily F member 3

HGNC Alias Symbol

EST201864

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018358.3

p.T218A

c.652A>G

Surrounding Variants

1 paper

NM_001351298.2

p.R205Q

c.614G>A

NM_018358.3

p.R211Q

c.632G>A

1 paper

NM_018358.3

p.T225P

c.673A>C

1 paper

NM_018358.3

p.G210V

c.629G>T

1 paper

NM_018358.3

p.R229W

c.685C>T

1 paper

NM_018358.3

p.R205H

c.614G>A

1 paper

NM_018358.3

p.S235F

c.704C>T

1 paper

NM_018358.3

p.N199I

c.596A>T

1 paper

NM_018358.3

p.D197H

c.589G>C

1 paper

NM_018358.3

p.A194D

c.581C>A

1 paper

NM_018358.3

p.V243L

c.727G>C

1 paper

NM_018358.3

p.E256*

c.766G>T

1 paper

NM_018358.3

p.R261*

c.781C>T