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.Q1034_E1038del0

c.3102_3113del12

Surrounding Variants

1 paper

NM_014389.3

p.Q1034_E1038del5

c.3100_3113del15

2 papers

NM_014389.3

p.S1033A

c.3097T>G

1 paper

NM_014389.3

p.G1047E

c.3140G>A

1 paper

NM_014389.3

p.G1013A

c.3038G>C

1 paper

NM_014389.3

p.P1001P

c.3003T>C

1 paper

NM_014389.3

p.P999_E1000del1

c.2997_2999delTCG

1 paper

NM_014389.3

p.E998del1

c.2992_2993delTTC

1 paper

NM_014389.3

p.P1083L

c.3248C>T

1 paper

NM_014389.3

p.E1093D

c.3279G>T

1 paper

NM_014389.3

p.E1093D

c.3279G>C

1 paper

NM_014389.3

p.E973_E974del1

c.2919_2921delTCT

1 paper

NM_014389.3

p.E946_E949del4

c.2836_2846del12