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.G240D

c.719G>A

Surrounding Variants

1 paper

NM_004225.3

p.A244T

c.730G>A

1 paper

NM_004225.3

p.A244G

c.731C>G

1 paper

NM_004225.3

p.L232F

c.694C>T

1 paper

NM_004225.3

p.L252M

c.754T>A

1 paper

NM_004225.3

p.S254R

c.760A>C

1 paper

NM_004225.3

p.S254T

c.761G>C

1 paper

NM_004225.3

p.S254R

c.762C>G

1 paper

NM_004225.3

p.S254R

c.762C>A

1 paper

NM_004225.3

p.L257L

c.771A>G

1 paper

NM_004225.3

p.D258E

c.774C>G

1 paper

NM_004225.3

p.D258E

c.774C>A

1 paper

NM_004225.3

p.E221D

c.663G>T