Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.L187delFs

c.560delT

Surrounding Variants

3 papers

NM_000251.3

p.L187I

c.559C>A

1 paper

NM_000251.3

p.L187_E188insG

c.559_563ins3

1 paper

NM_000251.3

p.L187_E188insGG

c.559_563ins6

1 paper

NM_000251.3

p.L187F

c.559C>T

29 papers

NM_000251.3

p.L187P

c.560T>C

20 papers

NM_000251.3

p.L187R

c.560T>G

24 papers

NM_000251.3

p.N186S

c.557A>G

3 papers

NM_000251.3

p.L187_L190del0

c.561_569del9

1 paper

NM_000251.3

p.N186H

c.556A>C

1 paper

NM_000251.3

p.N186D

c.556A>G

1 paper

NM_000251.3

p.E188K

c.562G>A

8 papers

NM_000251.3

p.E188Q

c.562G>C