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.Q202E

c.604C>G

Surrounding Variants

2 papers

NM_004225.3

p.L206P

c.617T>C

1 paper

NM_004225.3

p.E208D

c.624G>T

1 paper

NM_004225.3

p.E208D

c.624G>C

2 papers

NM_004225.3

p.L209M

c.625C>A

1 paper

NM_004225.3

p.G218S

c.652G>A

1 paper

NM_004225.3

p.L186M

c.556C>A

1 paper

NM_004225.3

p.E221D

c.663G>T

1 paper

NM_004225.3

p.E221D

c.663G>C

1 paper

NM_004225.3

p.S178C

c.533C>G

1 paper

NM_004225.3

p.L232F

c.694C>T

1 paper

NM_004225.3

p.F167_N168delFs

c.499_502del4

1 paper

NM_004225.3

p.G240D

c.719G>A