Varaico: Literature-Extracted Genetic Variants

HNF4A

904 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 a...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 172–361UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

hepatocyte nuclear factor 4 alpha

HGNC Previous Symbols

TCF14; MODY; MODY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_175914.5

p.Y306*

c.918T>G

Surrounding Variants

3 papers

NM_175914.5

p.Y306*

c.918T>A

1 paper

NM_175914.5

p.D307Y

c.919G>T

1 paper

NM_000457.6

p.D329_G335delFs

c.987_1003del17

1 paper

NM_175914.5

p.Y306_D307delFs

c.917_920del4

1 paper

NM_000457.6

p.Y328_F334delFs

c.982_1001del20

1 paper

NM_175914.5

p.Q305insFs

c.914dupA

1 paper

NM_175914.5

p.Q305*

c.913C>T

6 papers

NM_175914.5

p.R309C

c.925C>T

1 paper

NM_175914.5

p.R304H

c.911G>A

7 papers

NM_175914.5

p.R309H

c.926G>A

NM_000457.6

p.R331H

c.992G>A

4 papers

NM_175914.5

p.R309L

c.926G>T

1 paper

NM_175914.5

p.R304_Q305del2

c.910_914del6