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.C446Y

c.1337G>A

Surrounding Variants

1 paper

NM_004225.3

p.S450_P451ins1

c.1350_1351insTCA

1 paper

NM_004225.3

p.G436R

c.1306G>C

1 paper

NM_004225.3

p.G436R

c.1306G>A

1 paper

NM_004225.3

p.G457_I458ins9

c.1369_1373ins27

1 paper

NM_004225.3

p.T430A

c.1288A>G

1 paper

NM_004225.3

p.A420V

c.1259C>T

1 paper

NM_004225.3

p.K411R

c.1232A>G

1 paper

NM_004225.3

p.R409W

c.1225C>T

1 paper

NM_004225.3

p.I487I

c.1461C>T

1 paper

NM_004225.3

p.A400V

c.1199C>T

1 paper

NM_004225.3

p.V499_V502del0

c.1497_1505del9

1 paper

NM_004225.3

p.V499_V502del4

c.1495_1505del12