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

1–12 of 72 variants

3 papers

NM_018358.3

p.D502H

c.1504G>C

3 papers

NM_018358.3

p.P503L

c.1508C>T

2 papers

NM_018358.3

p.R406W

c.1216C>T

2 papers

NM_018358.3

p.R425C

c.1273C>T

2 papers

NM_018358.3

p.R510H

c.1529G>A

1 paper

NM_018358.3

p.C4W

c.12C>G

1 paper

NM_018358.3

p.E11fs

c.31_32fs

1 paper

NM_018358.3

p.Q18Q

c.54A>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