Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000458.4

p.G349Splc

c.1045+12T>C

Surrounding Variants

1 paper

NM_000458.4

p.G349Splc

c.1045+2T>G

4 papers

NM_000458.4

p.G349Splc

c.1045+1G>A

1 paper

NM_000458.4

p.S341_S348insFs

c.1022_1044dup23

1 paper

NM_000458.4

p.G349R

c.1045G>A

1 paper

NM_000458.4

p.S348A

c.1042T>G

2 papers

NM_000458.4

p.G349Splc

c.1045+27T>A

2 papers

NM_000458.4

p.S348fs

c.1042_1043fs

2 papers

NM_000458.4

p.L347insFs

c.1040dupT

1 paper

NM_000458.4

p.K346R

c.1037A>G

1 paper

NM_000458.4

p.N345_K346insFs

c.1035_1036insC

2 papers

NM_000458.4

p.N345D

c.1033A>G

1 paper

NM_000458.4

p.N345_K346insT

c.1033_1037ins3