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.S13C

c.38C>G

Surrounding Variants

1 paper

NM_014389.3

p.L35M

c.103C>A

1 paper

NM_014389.3

p.S62P

c.184T>C