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.W365R

c.1093T>C

Surrounding Variants

1 paper

NM_018358.3

p.W365R

c.1093T>A

1 paper

NM_018358.3

p.Y369*

c.1107C>A

1 paper

NM_018358.3

p.Y369*

c.1107C>G

1 paper

NM_018358.3

p.L350L

c.1048C>T

1 paper

NM_018358.3

p.A391T

c.1171G>A

1 paper

NM_018358.3

p.L397M

c.1189C>A

2 papers

NM_018358.3

p.R406W

c.1216C>T

1 paper

NM_018358.3

p.I413M

c.1239C>G

2 papers

NM_018358.3

p.R425C

c.1273C>T

1 paper

NM_018358.3

p.R340W

c.1018C>T

1 paper

NM_018358.3

p.Y433delFs

c.1298_1299delAT

1 paper

NM_018358.3

p.Y433fs

c.1297_1298fs