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

1 paper

NM_001202438.2

p.P259A

c.775C>G

Surrounding Variants

1 paper

NM_001202438.2

p.S254P

c.760T>C

2 papers

NM_001202438.2

p.E250K

c.748G>A

1 paper

NM_001202438.2

p.P248L

c.743C>T

2 papers

NM_001202438.2

p.S240L

c.719C>T

1 paper

NM_001202438.2

p.S212Splc

c.636-66C>T

1 paper

NM_001202438.2

p.K207*

c.619A>T

1 paper

NM_001202438.2

p.S206fs

c.616_617fs

1 paper

NM_001202438.2

p.S206delFs

c.616delT

1 paper

NM_001202438.2

p.D173V

c.518A>T

1 paper

NM_001202438.2

p.S168L

c.503C>T

1 paper

NM_001202438.2

p.R167S

c.501A>C

1 paper

NM_001202438.2

p.R167S

c.501A>T