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

1 paper

NM_000051.4

p.N3033N

c.9099T>C

Surrounding Variants

1 paper

NM_000051.4

p.N3033I

c.9098A>T

1 paper

NM_000051.4

p.N3033_L3034ins6

c.9097_9101ins18

1 paper

NM_000051.4

p.L3034W

c.9101T>G

5 papers

NM_000051.4

p.N3033insFs

c.9097_9098insA

1 paper

NM_000051.4

p.N3033_L3034insFs

c.9097_9101dup5

1 paper

NM_000051.4

p.N3033delFs

c.9097delA

1 paper

NM_000051.4

p.L3035I

c.9103C>A

8 papers

NM_000051.4

p.L3035F

c.9103C>T

2 papers

NM_000051.4

p.L3035fs

c.9103_9104fs

1 paper

NM_000051.4

p.V3032E

c.9095T>A

1 paper

NM_000051.4

p.V3032G

c.9095T>G

1 paper

NM_000051.4

p.V3032M

c.9094G>A