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

1–12 of 97 variants

3 papers

NM_001202438.2

p.N45S

c.134A>G

3 papers

NM_001202438.2

p.L95F

c.283C>T

2 papers

NM_001202438.2

p.V143M

c.427G>A

2 papers

NM_001202438.2

p.S240L

c.719C>T

2 papers

NM_001202438.2

p.E250K

c.748G>A

2 papers

NM_001202438.2

p.S879delFs

c.2635delA

2 papers

NM_001202438.2

p.S879fs

c.2635_2636fs

1 paper

NM_001202438.2

p.E10E

c.30G>A

1 paper

NM_001202438.2

p.R19Q

c.56G>A

1 paper

NM_001202438.2

p.N45H

c.133A>C

1 paper

NM_001202438.2

p.Y55H

c.163T>C

1 paper

NM_001202438.2

p.K74I

c.221A>T