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.Q190K

c.568C>A

Surrounding Variants

1 paper

NM_001422.4

p.K197R

c.590A>G

1 paper

NM_001422.4

p.L165L

c.493C>T

1 paper

NM_001422.4

p.K228R

c.683A>G

1 paper

NM_001422.4

p.R234Q

c.701G>A

1 paper

NM_001422.4

p.G244E

c.731G>A

1 paper

NM_001422.4

p.K245R

c.734A>G

1 paper

NM_001422.4

p.K143R

c.428A>G

1 paper

NM_001422.4

p.K134R

c.401A>G

1 paper

NM_001422.4

p.K130R

c.389A>G

1 paper

NM_001422.4

p.S129I

c.386G>T

1 paper

NM_001422.4

p.S121C

c.362C>G

1 paper

NM_001422.4

p.Y120*

c.360C>A