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.K571T

c.1712A>C

Surrounding Variants

1 paper

NM_172373.4

p.K572fs

c.1714_1715fs

1 paper

NM_172373.4

p.K572delFs

c.1715delT

1 paper

NM_172373.4

p.V552insFs

c.1655_1656insT

1 paper

NM_172373.4

p.V596M

c.1786G>A

2 papers

NM_172373.4

p.R540C

c.1618C>T

1 paper

NM_172373.4

p.E612K

c.1834G>A

1 paper

NM_172373.4

p.L613Q

c.1838T>A

1 paper

NM_172373.4

p.S529G

c.1585A>G

1 paper

NM_172373.4

p.G518G

c.1554A>C

1 paper

NM_172373.4

p.Q505*

c.1513C>T

1 paper

NM_172373.4

p.G462A

c.1385G>C

2 papers

NM_172373.4

p.S458P

c.1372T>C