Varaico: Literature-Extracted Genetic Variants

ELF1

105 papers

RefSeq Summary

This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate tra...

Pfam Domains

Elf-1_Naa 2–111UCSCTranscription factor protein N terminal

Etsaa 207–290UCSCEts-domain

Gene Aliases

HGNC Name

E74 like ETS transcription factor 1

HGNC Previous Name

E74-like factor 1 (ets domain transcription factor)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172373.4

p.G50S

c.148G>A

Surrounding Variants

1 paper

NM_172373.4

p.L51V

c.151C>G

1 paper

NM_172373.4

p.Y48insFs

c.142dupT

1 paper

NM_172373.4

p.Y48fs

c.142_143fs

1 paper

NM_172373.4

p.L45F

c.133C>T

2 papers

NM_172373.4

p.N58S

c.173A>G

1 paper

NM_172373.4

p.V39I

c.115G>A

1 paper

NM_172373.4

p.E37*

c.109G>T

1 paper

NM_172373.4

p.A33V

c.98C>T

1 paper

NM_172373.4

p.E71K

c.211G>A

1 paper

NM_172373.4

p.D79N

c.235G>A

1 paper

NM_172373.4

p.D79G

c.236A>G

1 paper

NM_172373.4

p.D79_D80del1

c.237_239delTCA