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.A2798T

c.8392G>A

Surrounding Variants

6 papers

NM_000051.4

p.A2798D

c.8393C>A

4 papers

NM_000051.4

p.S2797S

c.8391T>C

1 paper

NM_000051.4

p.F2799insFs

c.8397dupT

3 papers

NM_000051.4

p.F2799delFs

c.8397delT

1 paper

NM_000051.4

p.S2797N

c.8390G>A

1 paper

NM_000051.4

p.A2798_F2799del2

c.8392_8396del6

4 papers

NM_000051.4

p.S2797G

c.8389A>G

1 paper

NM_000051.4

p.F2799I

c.8395T>A

1 paper

NM_000051.4

p.F2799L

c.8395T>C

1 paper

NM_000051.4

p.F2799V

c.8395T>G

13 papers

NM_000051.4

p.F2799fs

c.8395_8396fs

21 papers

NM_000051.4

p.F2799fs

c.8395_8396fs