Varaico: Literature-Extracted Genetic Variants

EDRF1

65 papers

RefSeq Summary

This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and g...

Pfam Domains

EDRF1_Naa 46–560UCSCEDRF1 N-terminal

TPR_EDRF1aa 836–1230UCSCErythroid differentiation-related factor 1-like, TPR repeats

Gene Aliases

HGNC Name

erythroid differentiation regulatory factor 1

HGNC Previous Symbol

C10orf137

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001202438.2

p.S879delFs

c.2635delA

Surrounding Variants

2 papers

NM_001202438.2

p.S879fs

c.2635_2636fs

1 paper

NM_001202438.2

p.V864Splc

c.2591-1G>A

1 paper

NM_001202438.2

p.E891Q

c.2671G>C

1 paper

NM_001202438.2

p.M910V

c.2728A>G

1 paper

NM_001202438.2

p.R911W

c.2731C>T

1 paper

NM_001202438.2

p.R926C

c.2776C>T

1 paper

NM_001202438.2

p.R953Q

c.2858G>A

1 paper

NM_001202438.2

p.D1008N

c.3022G>A

1 paper

NM_001202438.2

p.S1011L

c.3032C>T

1 paper

NM_001202438.2

p.R1015L

c.3044G>T

1 paper

NM_001202438.2

p.R1022Q

c.3065G>A

1 paper

NM_001202438.2

p.R1029S

c.3087G>C