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.Q2210fs

c.6628_6629fs

Surrounding Variants

1 paper

NM_000051.4

p.Q2210*

c.6628C>T

5 papers

NM_000051.4

p.Q2210delFs

c.6629delA

1 paper

NM_000051.4

p.Q2210fs

c.6628_6629fs

1 paper

NM_000051.4

p.Q2210P

c.6629A>C

1 paper

NM_000051.4

p.S2209_K2213del0

c.6627_6638del12

1 paper

NM_000051.4

p.L2211I

c.6631C>A

1 paper

NM_000051.4

p.L2211fs

c.6631_6632fs

2 papers

NM_000051.4

p.S2209P

c.6625T>C

1 paper

NM_000051.4

p.S2209insFs

c.6626dupC

1 paper

NM_000051.4

p.Q2210delFs

c.6628delC

1 paper

NM_000051.4

p.L2212delFs

c.6635_6636delTC

1 paper

NM_000051.4

p.H2208N

c.6622C>A