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.H564Q

c.1692C>A

Surrounding Variants

1 paper

NM_004225.3

p.H564Q

c.1692C>G

1 paper

NM_004225.3

p.D565Y

c.1693G>T

1 paper

NM_004225.3

p.K563R

c.1688A>G

1 paper

NM_004225.3

p.Q561R

c.1682A>G

1 paper

NM_004225.3

p.R556C

c.1666C>T

2 papers

NM_004225.3

p.A579T

c.1735G>A

1 paper

NM_004225.3

p.E548Q

c.1642G>C

1 paper

NM_004225.3

p.L547R

c.1640T>G

1 paper

NM_004225.3

p.I534S

c.1601T>G

1 paper

NM_004225.3

p.V531V

c.1593G>A

1 paper

NM_004225.3

p.S599L

c.1796C>T

2 papers

NM_004225.3

p.G524R

c.1570G>C