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

3 papers

NM_000251.3

p.L390V

c.1168C>G

Surrounding Variants

79 papers

NM_000251.3

p.L390F

c.1168C>T

NM_001258281.1

p.L324F

c.970C>T

1 paper

NM_000251.3

p.L390Fs

c.1168_1170delinsAAFs

1 paper

NM_000251.3

p.L390insFs

c.1168dupC

2 papers

NM_000251.3

p.R389R

c.1167A>G

2 papers

NM_000251.3

p.L390delFs

c.1168delC

1 paper

NM_000251.3

p.L390P

c.1169T>C

1 paper

NM_000251.3

p.L390insFs

c.1169_1170ins20

11 papers

NM_000251.3

p.R389Q

c.1166G>A

1 paper

NM_000251.3

p.R389L

c.1166G>T

1 paper

NM_000251.3

p.L390L

c.1170T>C

1 paper

NM_000251.3

p.A391_A398delFs

c.1171_1193del23

80 papers

NM_000251.3

p.R389*

c.1165C>T