Varaico: Literature-Extracted Genetic Variants

PELP1

59 papers

RefSeq Summary

This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcrip...

Pfam Domains

RIX1aa 1–84UCSCrRNA processing/ribosome biogenesis

RIX1aa 104–281UCSCrRNA processing/ribosome biogenesis

PELP1_HEATaa 423–489UCSCPELP1, middle domain

PELP1_HEATaa 473–539UCSCPELP1, middle domain

PELP1_HEATaa 569–642UCSCPELP1, middle domain

PELP1_HEATaa 619–692UCSCPELP1, middle domain

Gene Aliases

HGNC Name

proline, glutamate and leucine rich protein 1

HGNC Alias Symbol

MNAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014389.3

p.E896_E899del0

c.2688_2696del9

Surrounding Variants

1 paper

NM_014389.3

p.E896_E899del4

c.2686_2696del12

1 paper

NM_014389.3

p.E898K

c.2692G>A

1 paper

NM_014389.3

p.I883V

c.2647A>G

1 paper

NM_014389.3

p.E944fs

c.2830_2831fs

1 paper

NM_014389.3

p.E946_E949del0

c.2838_2846del9

1 paper

NM_014389.3

p.E946_E949del4

c.2836_2846del12

1 paper

NM_014389.3

p.P847P

c.2541G>A

1 paper

NM_014389.3

p.P845_P846insFs

c.2535_2536insGC

1 paper

NM_014389.3

p.P846fs

c.2536_2537fs

1 paper

NM_014389.3

p.P845_P846insFs

c.2535_2536insG

1 paper

NM_014389.3

p.P840Q

c.2519C>A

2 papers

NM_014389.3

p.K826R

c.2477A>G