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

1 paper

NM_000458.4

p.G157R

c.469G>C

Surrounding Variants

1 paper

NM_000458.4

p.T158fs

c.472_473fs

1 paper

NM_000458.4

p.T158S

c.472A>T

12 papers

NM_000458.4

p.K156E

c.466A>G

1 paper

NM_000458.4

p.T158insFs

c.472_473ins8

1 paper

NM_000458.4

p.G157delFs

c.471delG

1 paper

NM_000458.4

p.K156_T158insFs

c.466_472dup7

3 papers

NM_000458.4

p.T158N

c.473C>A

3 papers

NM_000458.4

p.P159S

c.475C>T

2 papers

NM_000458.4

p.P159A

c.475C>G

1 paper

NM_000458.4

p.N155D

c.463A>G

1 paper

NM_000458.4

p.N155H

c.463A>C

14 papers

NM_000458.4

p.P159L

c.476C>T