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.D414V

c.1241A>T

Surrounding Variants

1 paper

NM_014389.3

p.N407D

c.1219A>G

1 paper

NM_014389.3

p.S425R

c.1273A>C

1 paper

NM_014389.3

p.S425R

c.1275C>G

1 paper

NM_014389.3

p.S425R

c.1275C>A

1 paper

NM_014389.3

p.R428Q

c.1283G>A

1 paper

NM_014389.3

p.S357G

c.1069A>G

1 paper

NM_014389.3

p.A517G

c.1550C>G

1 paper

NM_014389.3

p.I345_C346delFs

c.1034_1038del5

1 paper

NM_014389.3

p.L326F

c.976C>T

1 paper

NM_014389.3

p.L324P

c.971T>C

1 paper

NM_014389.3

p.A319T

c.955G>A

1 paper

NM_014389.3

p.S316_G317delFs

c.946_949del4