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.A125G

c.374C>G

Surrounding Variants

1 paper

NM_004225.3

p.V130L

c.388G>T

1 paper

NM_004225.3

p.V130L

c.388G>C

1 paper

NM_004225.3

p.V118_E129del12

c.352_386del36

1 paper

NM_004225.3

p.A133P

c.397G>C

1 paper

NM_004225.3

p.L137R

c.410T>G

1 paper

NM_004225.3

p.L113H

c.338T>A

1 paper

NM_004225.3

p.H111Y

c.331C>T

3 papers

NM_004225.3

p.G110A

c.329G>C

1 paper

NM_004225.3

p.G110C

c.328G>T

2 papers

NM_004225.3

p.L109R

c.326T>G

1 paper

NM_004225.3

p.L109P

c.326T>C

1 paper

NM_004225.3

p.E108G

c.323A>G