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

1–12 of 76 variants

3 papers

NM_014389.3

p.T1126S

c.3376A>T

2 papers

NM_014389.3

p.K826R

c.2477A>G

2 papers

NM_014389.3

p.S1033A

c.3097T>G

1 paper

NM_014389.3

p.S13C

c.38C>G

1 paper

NM_014389.3

p.L35M

c.103C>A

1 paper

NM_014389.3

p.S62P

c.184T>C

1 paper

NM_014389.3

p.A97G

c.290C>G

1 paper

NM_014389.3

p.E107G

c.320A>G

1 paper

NM_014389.3

p.E122K

c.364G>A

1 paper

NM_014389.3

p.G179V

c.536G>T

1 paper

NM_014389.3

p.A236P

c.706G>C

1 paper

NM_014389.3

p.G253S

c.757G>A