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

1 paper

NM_175914.5

p.E111*

c.331G>T

Surrounding Variants

2 papers

NM_175914.5

p.E111K

c.331G>A

1 paper

NM_175914.5

p.N110I

c.329A>T

1 paper

NM_175914.5

p.E111D

c.333G>T

4 papers

NM_175914.5

p.R112W

c.334C>T

8 papers

NM_175914.5

p.R112Q

c.335G>A

3 papers

NM_175914.5

p.R112P

c.335G>C

1 paper

NM_000457.6

p.Q131E

c.391C>G

2 papers

NM_000457.6

p.Q131*

c.391C>T

32 papers

NM_175914.5

p.R114W

c.340C>T

NM_000457.6

p.R136W

c.406C>T

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