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

3 papers

NM_018358.3

p.D502H

c.1504G>C

Surrounding Variants

3 papers

NM_018358.3

p.P503L

c.1508C>T

2 papers

NM_018358.3

p.R510H

c.1529G>A

1 paper

NM_018358.3

p.P490T

c.1468C>A

1 paper

NM_001351298.2

p.P483L

c.1448C>T

1 paper

NM_018358.3

p.E518V

c.1553A>T

1 paper

NM_018358.3

p.D471E

c.1413C>A

1 paper

NM_018358.3

p.D471E

c.1413C>G

1 paper

NM_018358.3

p.R445C

c.1333C>T

1 paper

NM_018358.3

p.V524delFs

c.1570_1571delGT

1 paper

NM_018358.3

p.Y433fs

c.1297_1298fs

1 paper

NM_018358.3

p.Y433delFs

c.1298_1299delAT

2 papers

NM_018358.3

p.R425C

c.1273C>T