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.D43_R44Fs

c.129_130delinsAFs

Surrounding Variants

1 paper

NM_175914.5

p.D43E

c.129C>A

1 paper

NM_175914.5

p.D43D

c.129C>T

1 paper

NM_175914.5

p.R44insFs

c.130dupC

1 paper

NM_175914.5

p.D43G

c.128A>G

2 papers

NM_175914.5

p.R44delFs

c.130delC

4 papers

NM_175914.5

p.A45T

c.133G>A

NM_001287183.2

p.A42T

c.124G>A

1 paper

NM_175914.5

p.A45V

c.134C>T

2 papers

NM_175914.5

p.G42R

c.124G>A

3 papers

NM_175914.5

p.G42R

c.124G>C

2 papers

NM_175914.5

p.T46A

c.136A>G

1 paper

NM_175914.5

p.T46S

c.136A>T

1 paper

NM_000457.6

p.C63Y

c.188G>A