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.L357P

c.1070T>C

Surrounding Variants

1 paper

NM_004225.3

p.R366W

c.1096C>T

1 paper

NM_004225.3

p.L369V

c.1105T>G

1 paper

NM_004225.3

p.P376P

c.1128A>T

1 paper

NM_004225.3

p.N329D

c.985A>G

1 paper

NM_004225.3

p.D327N

c.979G>A

1 paper

NM_004225.3

p.L324S

c.971T>C

1 paper

NM_004225.3

p.A400V

c.1199C>T

1 paper

NM_004225.3

p.Q307R

c.920A>G

1 paper

NM_004225.3

p.R409W

c.1225C>T

1 paper

NM_004225.3

p.K411R

c.1232A>G

1 paper

NM_004225.3

p.E299D

c.897G>T

1 paper

NM_004225.3

p.E299D

c.897G>C