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.E127*

c.379G>T

Surrounding Variants

1 paper

NM_018358.3

p.K131*

c.391A>T

1 paper

NM_018358.3

p.N147S

c.440A>G

1 paper

NM_018358.3

p.V150I

c.448G>A

1 paper

NM_018358.3

p.E164D

c.492G>C

1 paper

NM_018358.3

p.S165N

c.494G>A

1 paper

NM_018358.3

p.R166W

c.496C>T

1 paper

NM_018358.3

p.S170P

c.508T>C

1 paper

NM_018358.3

p.G171R

c.511G>C

1 paper

NM_018358.3

p.Y176H

c.526T>C

1 paper

NM_018358.3

p.G108fs

c.322_323fs

1 paper

NM_018358.3

p.C102S

c.305G>C

1 paper

NM_018358.3

p.C102S

c.304T>A