Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.M1064L

c.3190A>C

Surrounding Variants

5 papers

NM_000051.4

p.M1064V

c.3190A>G

2 papers

NM_000051.4

p.M1064L

c.3190A>T

2 papers

NM_000051.4

p.M1064T

c.3191T>C

1 paper

NM_000051.4

p.M1064I

c.3192G>A

1 paper

NM_000051.4

p.M1064I

c.3192G>C

1 paper

NM_000051.4

p.M1064I

c.3192G>T

1 paper

NM_000051.4

p.V1063A

c.3188T>C

1 paper

NM_000051.4

p.V1063_M1064delFs

c.3189_3192del4

1 paper

NM_000051.4

p.G1065fs

c.3193_3194fs

5 papers

NM_000051.4

p.G1065E

c.3194G>A

1 paper

NM_000051.4

p.K1066insFs

c.3197dupA

1 paper

NM_000051.4

p.G1065V

c.3194G>T