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_000457.6

p.A61A

c.183C>A

Surrounding Variants

1 paper

NM_175914.5

p.A39D

c.116C>A

1 paper

NM_175914.5

p.A39V

c.116C>T

3 papers

NM_000457.6

p.A61T

c.181G>A

NM_175914.5

p.A39T

c.115G>A

1 paper

NM_175914.5

p.A39delFs

c.115delG

1 paper

NM_175914.5

p.C38Y

c.113G>A

1 paper

NM_000457.6

p.C63Y

c.188G>A

2 papers

NM_001258355.2

p.C53R

c.157T>C

NM_175914.5

p.C38R

c.112T>C

1 paper

NM_175914.5

p.C38delFs

c.112delT

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.L37P

c.110T>C

3 papers

NM_000457.6

p.L59L

c.175C>T

NM_175914.5

p.L37L

c.109C>T