Varaico: Literature-Extracted Genetic Variants

ABCE1

100 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

Fer4_RLIaa 6–37UCSCPossible Fer4-like domain in RNase L inhibitor, RLI

Fer4aa 48–71UCSC4Fe-4S binding domain

ABC_tranaa 99–245UCSCABC transporter

ABC_tranaa 362–490UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily E member 1

HGNC Previous Symbols

RNASEL1; RNASELI; RNS4I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002940.3

p.Q197P

c.590A>C

Surrounding Variants

1 paper

NM_002940.3

p.T194I

c.581C>T

2 papers

NM_002940.3

p.T194A

c.580A>G

1 paper

NM_002940.3

p.L204I

c.610C>A

1 paper

NM_002940.3

p.I176S

c.527T>G

1 paper

NM_002940.3

p.R148H

c.443G>A

1 paper

NM_002940.3

p.R148C

c.442C>T

2 papers

NM_002940.3

p.Q141K

c.421C>A

1 paper

NM_002940.3

p.P138S

c.412C>T

1 paper

NM_002940.3

p.P137S

c.409C>T

1 paper

NM_002940.3

p.D136V

c.407A>T

1 paper

NM_002940.3

p.L209Q

c.626T>A

1 paper

NM_002940.3

p.L209P

c.626T>C