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.A846G

c.2537C>G

Surrounding Variants

1 paper

NM_004225.3

p.K849R

c.2546A>G

1 paper

NM_004225.3

p.N842S

c.2525A>G

1 paper

NM_004225.3

p.N856D

c.2566A>G

1 paper

NM_004225.3

p.N834S

c.2501A>G

1 paper

NM_004225.3

p.L819R

c.2456T>G

1 paper

NM_004225.3

p.Q881H

c.2643G>T

1 paper

NM_004225.3

p.Q881H

c.2643G>C

1 paper

NM_004225.3

p.I882T

c.2645T>C

1 paper

NM_004225.3

p.P809R

c.2426C>G

4 papers

NM_004225.3

p.L892P

c.2675T>C

1 paper

NM_004225.3

p.S899I

c.2696G>T

1 paper

NM_004225.3

p.E790*

c.2368G>T