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.S705F

c.2114C>T

Surrounding Variants

1 paper

NM_004225.3

p.A703S

c.2107G>T

1 paper

NM_004225.3

p.G711S

c.2131G>A

2 papers

NM_004225.3

p.A693V

c.2078C>T

1 paper

NM_004225.3

p.P720T

c.2158C>A

1 paper

NM_004225.3

p.R688P

c.2063G>C

1 paper

NM_004225.3

p.P674L

c.2021C>T

1 paper

NM_004225.3

p.L659V

c.1975C>G

2 papers

NM_004225.3

p.G755R

c.2263G>C

2 papers

NM_004225.3

p.G755R

c.2263G>A

1 paper

NM_004225.3

p.A646T

c.1936G>A

1 paper

NM_004225.3

p.S767Y

c.2300C>A

1 paper

NM_004225.3

p.P768L

c.2303C>T