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

44 papers

NM_000051.4

p.F2799_Q2802delFs

c.8395_8404del10

Surrounding Variants

1 paper

NM_000051.4

p.D2795A

c.8384A>C

1 paper

NM_000051.4

p.D2795_F2799delFs

c.8385_8395del11

1 paper

NM_000051.4

p.D2795N

c.8383G>A

4 papers

NM_000051.4

p.D2795fs

c.8383_8384fs

3 papers

NM_000051.4

p.D2795Y

c.8383G>T

2 papers

NM_000051.4

p.D2795delFs

c.8383delG

1 paper

NM_000051.4

p.F2796fs

c.8386_8387fs

4 papers

NM_000051.4

p.S2797G

c.8389A>G

1 paper

NM_000051.4

p.P2793L

c.8378C>T

1 paper

NM_000051.4

p.P2793_F2796del0

c.8379_8387del9

1 paper

NM_000051.4

p.S2797N

c.8390G>A

1 paper

NM_000051.4

p.A2798_F2799del2

c.8392_8396del6