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

5 papers

NM_000458.4

p.H336R

c.1007A>G

Surrounding Variants

6 papers

NM_000458.4

p.H336insFs

c.1006dupC

4 papers

NM_000458.4

p.H336delFs

c.1006delG

1 paper

NM_000458.4

p.S334_H336delFs

c.1002_1006del5

4 papers

NM_000458.4

p.H336Y

c.1006C>T

1 paper

NM_000458.4

p.H336H

c.1008C>T

25 papers

NM_000458.4

p.H336D

c.1006C>G

1 paper

NM_000458.4

p.H336_H337insFs

c.1008_1009insT

2 papers

NM_000458.4

p.H336fs

c.1006_1007fs

1 paper

NM_000458.4

p.H336N

c.1006C>A

4 papers

NM_000458.4

p.H336fs

c.1006_1007fs

1 paper

NM_000458.4

p.P335P

c.1005C>T

1 paper

NM_000458.4

p.H337D

c.1009C>G