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

1–12 of 164 variants

9 papers

NM_004225.3

p.V106G

c.317T>G

4 papers

NM_004225.3

p.L892P

c.2675T>C

3 papers

NM_004225.3

p.G110A

c.329G>C

2 papers

NM_004225.3

p.L102R

c.305T>G

2 papers

NM_004225.3

p.L109R

c.326T>G

2 papers

NM_004225.3

p.L206P

c.617T>C

2 papers

NM_004225.3

p.L209M

c.625C>A

2 papers

NM_004225.3

p.G524R

c.1570G>C

2 papers

NM_004225.3

p.G524R

c.1570G>A

2 papers

NM_004225.3

p.A579T

c.1735G>A

2 papers

NM_004225.3

p.A693V

c.2078C>T

2 papers

NM_004225.3

p.G755R

c.2263G>C