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

3 papers

NM_175914.5

p.A107Splc

c.320-1G>A

Surrounding Variants

5 papers

NM_175914.5

p.A107D

c.320C>A

1 paper

NM_175914.5

p.A107fs

c.319_320fs

1 paper

NM_175914.5

p.A107A

c.321C>G

7 papers

NM_175914.5

p.V108I

c.322G>A

1 paper

NM_175914.5

p.V108F

c.322G>T

1 paper

NM_175914.5

p.V108fs

c.322_323fs

1 paper

NM_175914.5

p.V108_E111delFs

c.323_332del10

1 paper

NM_000457.6

p.Q131E

c.391C>G

2 papers

NM_000457.6

p.Q131*

c.391C>T

1 paper

NM_175914.5

p.N110I

c.329A>T

2 papers

NM_175914.5

p.E111K

c.331G>A

1 paper

NM_175914.5

p.E111*

c.331G>T