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

2 papers

NM_000179.3

p.V143I

c.427G>A

Surrounding Variants

1 paper

NM_000179.3

p.V143F

c.427G>T

4 papers

NM_000179.3

p.W142*

c.426G>A

2 papers

NM_000179.3

p.V143G

c.428T>G

1 paper

NM_000179.3

p.V143insFs

c.428_429insC

6 papers

NM_000179.3

p.W142*

c.425G>A

1 paper

NM_000179.3

p.V143V

c.429T>C

1 paper

NM_000179.3

p.S144_K145ins5

c.430_434ins15

1 paper

NM_000179.3

p.S144N

c.431G>A

1 paper

NM_000179.3

p.S144T

c.431G>C

52 papers

NM_000179.3

p.S144I

c.431G>T

2 papers

NM_000179.3

p.S144delFs

c.432delC

1 paper

NM_000179.3

p.G141D

c.422G>A