Varaico: Literature-Extracted Genetic Variants

ELF5

27 papers

RefSeq Summary

This gene encodes an epithelium-specific ETS family transcription factor. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a ...

Pfam Domains

SAM_PNTaa 45–129UCSCSterile alpha motif (SAM)/Pointed domain

Etsaa 172–254UCSCEts-domain

Gene Aliases

HGNC Name

E74 like ETS transcription factor 5

HGNC Previous Name

E74-like factor 5 (ets domain transcription factor)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001422.4

p.A35D

c.104C>A

Surrounding Variants

1 paper

NM_001422.4

p.A35T

c.103G>A

1 paper

NM_001422.4

p.P34A

c.100C>G

1 paper

NM_001422.4

p.D25N

c.73G>A

1 paper

NM_001422.4

p.C17R

c.49T>C

1 paper

NM_001422.4

p.S8N

c.23G>A