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.R687C

c.2059C>T

Surrounding Variants

1 paper

NM_018358.3

p.G707D

c.2120G>A

1 paper

NM_018358.3

p.R657T

c.1970G>C

1 paper

NM_018358.3

p.D635V

c.1904A>T

1 paper

NM_018358.3

p.L608F

c.1822C>T

1 paper

NM_018358.3

p.R606H

c.1817G>A

1 paper

NM_018358.3

p.R585W

c.1753C>T

1 paper

NM_018358.3

p.R546L

c.1637G>T

1 paper

NM_018358.3

p.V524delFs

c.1570_1571delGT

1 paper

NM_018358.3

p.E518V

c.1553A>T

2 papers

NM_018358.3

p.R510H

c.1529G>A

3 papers

NM_018358.3

p.P503L

c.1508C>T

3 papers

NM_018358.3

p.D502H

c.1504G>C