Varaico: Literature-Extracted Genetic Variants

MFHAS1

103 papers

RefSeq Summary

Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GT...

Pfam Domains

LRR_8aa 111–170UCSCLeucine rich repeat

LRR_8aa 150–193UCSCLeucine rich repeat

LRR_8aa 181–239UCSCLeucine rich repeat

LRR_8aa 250–308UCSCLeucine rich repeat

LRR_8aa 296–354UCSCLeucine rich repeat

Gene Aliases

HGNC Name

multifunctional ROCO family signaling regulator 1

HGNC Alias Symbols

MASL1; LRRC65

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004225.3

p.E162K

c.484G>A

Surrounding Variants

1 paper

NM_004225.3

p.E161Q

c.481G>C

1 paper

NM_004225.3

p.F167_N168delFs

c.499_502del4

1 paper

NM_004225.3

p.Q153ins3

c.457_458ins9

1 paper

NM_004225.3

p.L147M

c.439C>A

1 paper

NM_004225.3

p.S178C

c.533C>G

1 paper

NM_004225.3

p.S143N

c.428G>A

1 paper

NM_004225.3

p.L186M

c.556C>A

1 paper

NM_004225.3

p.L137R

c.410T>G

1 paper

NM_004225.3

p.A133P

c.397G>C

1 paper

NM_004225.3

p.V118_E129del12

c.352_386del36

1 paper

NM_004225.3

p.V130L

c.388G>T

1 paper

NM_004225.3

p.V130L

c.388G>C