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.Y66Fs

c.198delinsCTTFs

Surrounding Variants

2 papers

NM_000251.3

p.Y66*

c.198C>A

1 paper

NM_000251.3

p.Y66_M67ins5

c.198_199ins15

2 papers

NM_000251.3

p.Y66*

c.198C>G

2 papers

NM_000251.3

p.Y66Y

c.198C>T

1 paper

NM_000251.3

p.M67_P69del0

c.199_207del9

1 paper

NM_000251.3

p.M67_A70del4

c.199_209del12

1 paper

NM_000251.3

p.Y66insFs

c.198dupC

1 paper

NM_000251.3

p.Y66S

c.197A>C

1 paper

NM_000251.3

p.M67L

c.199A>C

3 papers

NM_000251.3

p.M67V

c.199A>G

1 paper

NM_000251.3

p.M67L

c.199A>T

2 papers

NM_000251.3

p.M67K

c.200T>A