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

6 papers

NM_000251.3

p.D49delFs

c.145delG

Surrounding Variants

2 papers

NM_000251.3

p.E48A

c.143A>C

1 paper

NM_000251.3

p.E48G

c.143A>G

2 papers

NM_000251.3

p.E48V

c.143A>T

2 papers

NM_000251.3

p.D49_A50delFs

c.145_148del4

3 papers

NM_000251.3

p.E48K

c.142G>A

2 papers

NM_000251.3

p.E48E

c.144G>A

1 paper

NM_000251.3

p.E48Q

c.142G>C

1 paper

NM_000251.3

p.E48D

c.144G>C

1 paper

NM_000251.3

p.E48_D49insFs

c.144_145ins5

3 papers

NM_000251.3

p.E48fs

c.142_143fs

1 paper

NM_000251.3

p.E48_D49insTGG

c.142_146ins9

13 papers

NM_000251.3

p.E48*

c.142G>T