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.L318Q

c.953T>A

Surrounding Variants

1 paper

NM_007189.3

p.Q324Q

c.972G>A

1 paper

NM_007189.3

p.A353S

c.1057G>T

1 paper

NM_007189.3

p.R354W

c.1060C>T

1 paper

NM_007189.3

p.T362M

c.1085C>T

1 paper

NM_007189.3

p.S382S

c.1146A>G

1 paper

NM_007189.3

p.L416V

c.1246C>G

1 paper

NM_007189.3

p.F418C

c.1253T>G

1 paper

NM_007189.3

p.R425*

c.1273C>T

1 paper

NM_007189.3

p.A434A

c.1302A>T

1 paper

NM_007189.3

p.S437L

c.1310C>T

1 paper

NM_007189.3

p.V279V

c.837C>T

1 paper

NM_007189.3

p.R276H

c.827G>A