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.L740V

c.2218C>G

Surrounding Variants

1 paper

NM_014389.3

p.L740ins6

c.2219_2220ins18

1 paper

NM_014389.3

p.T749_P752del0

c.2247_2255del9

1 paper

NM_014389.3

p.E754K

c.2260G>A

1 paper

NM_014389.3

p.G757A

c.2270G>C

1 paper

NM_014389.3

p.V760M

c.2278G>A

1 paper

NM_014389.3

p.P761_R762delFs

c.2282_2285del4

1 paper

NM_014389.3

p.S712P

c.2134T>C

1 paper

NM_014389.3

p.V776_E777del1

c.2328_2330delTCC

1 paper

NM_014389.3

p.S784P

c.2350T>C

1 paper

NM_014389.3

p.V788G

c.2363T>G

1 paper

NM_014389.3

p.P690ins6

c.2069_2070ins18

1 paper

NM_014389.3

p.I790I

c.2370C>T