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.H996R

c.2987A>G

Surrounding Variants

2 papers

NM_000051.4

p.H996Y

c.2986C>T

3 papers

NM_000051.4

p.H996Q

c.2988T>A

2 papers

NM_000051.4

p.H996H

c.2988T>C

3 papers

NM_000051.4

p.H996Q

c.2988T>G

1 paper

NM_000051.4

p.V997V

c.2991A>G

2 papers

NM_000051.4

p.L995I

c.2983C>A

2 papers

NM_000051.4

p.L995V

c.2983C>G

3 papers

NM_000051.4

p.L995F

c.2983C>T

2 papers

NM_000051.4

p.L995_H996delFs

c.2985_2988del4

1 paper

NM_000051.4

p.V994_L995insFs

c.2982_2983insT

5 papers

NM_000051.4

p.V998M

c.2992G>A

1 paper

NM_000051.4

p.V998fs

c.2992_2993fs