Varaico: Literature-Extracted Genetic Variants

ECM2

52 papers

RefSeq Summary

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been fo...

Pfam Domains

VWCaa 103–157UCSCvon Willebrand factor type C domain

LRR_1aa 368–392UCSCLeucine Rich Repeat

LRR_8aa 485–547UCSCLeucine rich repeat

LRR_4aa 608–651UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

extracellular matrix protein 2

HGNC Previous Name

extracellular matrix protein 2, female organ and adipocyte specific

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

7 papers

NM_001393.4

p.Q56P

c.167A>C

3 papers

NM_001393.4

p.P155L

c.464C>T

3 papers

NM_001393.4

p.R204*

c.610C>T

1 paper

NM_001393.4

p.L6F

c.18G>T

1 paper

NM_001393.4

p.L6F

c.18G>C

1 paper

NM_001393.4

p.R30S

c.90G>T

1 paper

NM_001393.4

p.R30S

c.90G>C

1 paper

NM_001393.4

p.I33S

c.98T>G

1 paper

NM_001393.4

p.P68R

c.203C>G

1 paper

NM_001393.4

p.E77Q

c.229G>C

1 paper

NM_001393.4

p.E77K

c.229G>A

1 paper

NM_001393.4

p.S84delFs

c.251_252delTG