Varaico: Literature-Extracted Genetic Variants

ABCF2

43 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. Alterations i...

Pfam Domains

ABC_tranaa 101–257UCSCABC transporter

ABC_tran_Xtnaa 296–383UCSCABC transporter

ABC_tranaa 413–545UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily F member 2

HGNC Alias Symbols

EST133090; ABC28; M-ABC1; HUSSY-18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007189.3

p.G47D

c.140G>A

Surrounding Variants

2 papers

NM_007189.3

p.G47S

c.139G>A

1 paper

NM_007189.3

p.Q38H

c.114G>T

1 paper

NM_007189.3

p.Q38H

c.114G>C

1 paper

NM_007189.3

p.G31R

c.91G>C

1 paper

NM_007189.3

p.G31R

c.91G>A

1 paper

NM_007189.3

p.R20*

c.58C>T

1 paper

NM_007189.3

p.A11T

c.31G>A

1 paper

NM_007189.3

p.D4V

c.11A>T

1 paper

NM_007189.3

p.M65K

c.194T>A

1 paper

NM_007189.3

p.V165F

c.493G>T

1 paper

NM_007189.3

p.R178Q

c.533G>A

1 paper

NM_007189.3

p.E198K

c.592G>A