Varaico: Literature-Extracted Genetic Variants

HMMR

81 papers

RefSeq Summary

The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associate...

Pfam Domains

HMMR_Naa 15–338UCSCHyaluronan mediated motility receptor N-terminal

HMMR_Caa 552–708UCSCHyaluronan mediated motility receptor C-terminal

Gene Aliases

HGNC Name

hyaluronan mediated motility receptor

HGNC Alias Symbols

RHAMM; CD168

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142556.2

p.L403S

c.1208T>C

Surrounding Variants

1 paper

NM_001142556.2

p.L403F

c.1209G>C

1 paper

NM_001142556.2

p.L403F

c.1209G>T

1 paper

NM_001142556.2

p.E405K

c.1213G>A

1 paper

NM_001142556.2

p.K408N

c.1224A>T

1 paper

NM_001142556.2

p.R410T

c.1229G>C

1 paper

NM_001142556.2

p.D384delFs

c.1150delG

1 paper

NM_001142556.2

p.E376K

c.1126G>A

3 papers

NM_012484.3

p.V368A

c.1103T>C

NM_001142556.2

p.V369A

c.1106T>C

2 papers

NM_001142556.2

p.E352*

c.1054G>T

1 paper

NM_001142556.2

p.E334D

c.1002A>C

1 paper

NM_001142556.2

p.E334D

c.1002A>T

1 paper

NM_001142557.2

p.R246H

c.737G>A