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.Q18Q

c.54A>G

Surrounding Variants

1 paper

NM_018358.3

p.E11fs

c.31_32fs

1 paper

NM_018358.3

p.C4W

c.12C>G

1 paper

NM_018358.3

p.K56R

c.167A>G

1 paper

NM_018358.3

p.I91V

c.271A>G

1 paper

NM_018358.3

p.S94P

c.280T>C

1 paper

NM_018358.3

p.S94*

c.281C>A

1 paper

NM_018358.3

p.S94*

c.281C>G

1 paper

NM_018358.3

p.C102S

c.304T>A

1 paper

NM_018358.3

p.C102S

c.305G>C

1 paper

NM_018358.3

p.G108fs

c.322_323fs

1 paper

NM_018358.3

p.E127*

c.379G>T

1 paper

NM_018358.3

p.K131*

c.391A>T