Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.G1002delFs

c.3004_3005delGG

Surrounding Variants

1 paper

NM_000179.3

p.K1001insFs

c.3002_3003insG

1 paper

NM_000179.3

p.K1001fs

c.3001_3002fs

1 paper

NM_000179.3

p.G1002_R1005del4

c.3004_3014del12

1 paper

NM_000179.3

p.G1002S

c.3004G>A

1 paper

NM_000179.3

p.K1001_G1002del2

c.3001_3005del6

1 paper

NM_000179.3

p.K1000fs

c.2998_2999fs

1 paper

NM_000179.3

p.K1000delFs

c.2999delA

1 paper

NM_000179.3

p.T999P

c.2995A>C

1 paper

NM_000179.3

p.T999A

c.2995A>G

1 paper

NM_000179.3

p.C1003C

c.3009T>C

1 paper

NM_000179.3

p.C1003_K1004delins

c.3009_3010delinsCT

1 paper

NM_000179.3

p.K1004*

c.3010A>T