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.S53F

c.158C>T

Surrounding Variants

1 paper

NM_004225.3

p.Q55H

c.165G>T

1 paper

NM_004225.3

p.Q55H

c.165G>C

1 paper

NM_004225.3

p.C40_A45ins2

c.118_135dup18

1 paper

NM_004225.3

p.L62I

c.184C>A

1 paper

NM_004225.3

p.C40_A43del0

c.118_129del12

1 paper

NM_004225.3

p.P41L

c.122C>T

1 paper

NM_004225.3

p.L68Q

c.203T>A

1 paper

NM_004225.3

p.T35S

c.104C>G

1 paper

NM_004225.3

p.T35S

c.103A>T

1 paper

NM_004225.3

p.L34F

c.100C>T

1 paper

NM_004225.3

p.L32F

c.94C>T

1 paper

NM_004225.3

p.E77K

c.229G>A