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

2 papers

NM_000251.3

p.K172fs

c.514_515fs

Surrounding Variants

6 papers

NM_000251.3

p.K172fs

c.514_515fs

1 paper

NM_000251.3

p.K172R

c.515A>G

2 papers

NM_000251.3

p.K172delFs

c.516delA

1 paper

NM_000251.3

p.K172_L173del2

c.514_518del6

1 paper

NM_000251.3

p.K172N

c.516A>C

1 paper

NM_000251.3

p.K172N

c.516A>T

1 paper

NM_000251.3

p.L173_G174delFs

c.517_520del4

8 papers

NM_000251.3

p.R171K

c.512G>A

2 papers

NM_000251.3

p.R171M

c.512G>T

1 paper

NM_000251.3

p.K172_L175del4

c.514_524del12

3 papers

NM_000251.3

p.R171fs

c.511_512fs

1 paper

NM_000251.3

p.R171_K172ins10

c.511_515ins30